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Tell us what you think about the use and regulation of genomics data

As genome sequencing becomes a more common technique within the NHS, questions about the best way to regulate access to genomic data and how it is used, and how these processes are best communicated to patients and study participants become ever more important. The answers to these questions will help inform the way the health service should handle genomic information about its patients.

If you are over 18, and are a patient, or a relative or carer of a patient, with a diagnosed or suspected rare genetic condition or cancer, we want to hear from you. We are looking to learn from patients how they feel about the use and regulation of genomic data. You can complete our survey.

The 100,000 Genomes Project is sequencing 100,000 human genomes, including the genomes of certain cancers, with the aim of helping the NHS become one of the first health systems in the world to use whole genome information in mainstream clinical practice. It also allows approved researchers worldwide to access the information from the sequenced genomes to generate more knowledge to help patients, but the project raises some difficult questions:

- What personal and genomic information should be made available to medical researchers?

- What should happen when patients withdraw or can’t give their consent to be in the project?

- What consequences should there be for misuse of genomic data gathered during the project?

We have developed two 20 minute surveys, the first of which is now online. The survey results will help inform the way the 100,000 Genomes Project collects and shares the data it generates. More information on how we will use the responses can be seen on the first page of the survey.

If you have any questions before taking part, or during the survey, you can contact our Public Engagement and Project Manager, , or call our office on +44 (0)20 7704 3141.


Backbench MPs call for better support for those diagnosed through innovative genomic research projects

Joshua Tucker

On Wednesday 4 May 2016, the All Party Parliamentary Group on Rare Genetic and Undiagnosed Conditions met to launch their new report ‘Undiagnosed genetic conditions and the impact of genome sequencing’. The report was launched by Ben Howlett MP, Chair of the APPG who said:

“For any parent, finding out their child is unwell is understandably one of the worst things that can happen to them. Words cannot describe how a parent must feel knowing their child has either a genetic or undiagnosed condition and nobody can tell them what is wrong and how to help their child.

Thanks to the genomics revolution, families affected by the undiagnosed conditions are now receiving a diagnosis – something that would have been unthinkable only a few years back. The challenge for the NHS will be to meet the needs of these families.

This report, the first of its kind from the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions, includes a variety of recommendations to improve the care and support for families affected by the very rarest genetic conditions. I will work with my colleagues in Parliament to ensure these recommendations are taken on board by the relevant stakeholders.”

Joshua Tucker

The meeting also heard from Sarah Oakes, the parent of a child with an undiagnosed genetic condition, and Peter Marks, Genetic Counsellor.

Sarah Oakes, mum to Joel (6) said:

“Although we are having a bit of a bumpy journey towards diagnosis, we are grateful to be able to participate in these ground breaking projects, and we firmly believe that this research is gathering information that will be life changing in terms of both diagnosis, and care and treatment, for a great many families both now and in the future.”

The APPG aims to increase awareness of rare, genetic and undiagnosed conditions in Parliament and to help ensure that patients and families affected by these conditions have access to appropriate care and support, so this investigation was extremely pertinent to the APPG members. The research, conducted on behalf of the APPG by Rare Disease UK (RDUK), involved interviews with families of children who have been diagnosed through research projects such as Deciphering Developmental Delay, a research project conducting exome sequencing, and the 100,000 Genomes Project, which is aiming to sequence 100,000 human genomes in the UK.

These families told RDUK that whilst receiving a diagnosis was extremely important to them, and there were many benefits including for reproductive choice, that they felt they would have liked a better understanding of the possible implications including rarity, isolation and continuing uncertainty. Many families also highlighted that receiving a diagnosis is a life changing event, but not the end of the story and so they would like more support post-diagnosis as well as throughout the process.

The initial findings of the research were discussed at a workshop of the APPG, where members heard from families and professionals. They had a fruitful discussion of the key issues raised and made suggestions for improvements. The interviews with families and the APPG discussions helped formulate the final report.

Joshua Tucker

The report is titled ‘Undiagnosed genetic conditions and the impact of genome sequencing’ and makes a series of recommendations to the Department of Health, NHS England, Clinical Genetic Services and other related organisations. The group of back bench MPs have called for improvements for families in three areas of care:

  • Managing expectations, results and implications: NHS England and the appropriate medical professionals must consider best practice in the management of expectations when patients receive genome sequencing. Often families do not know what to expect, or what the implications are of receiving a diagnosis from studies such as DDD and 100,000 Genomes or what results will mean – adding further confusion to an already difficult situation.
  • Support for diagnosed: Much more support needs to be provided to families who have been diagnosed through genomic studies. Receiving this kind of diagnosis can be confusing, unsettling and an extremely emotional time for families of children with previously undiagnosed conditions. The Department of Health, and those leading research in this area, should be responsible for providing adequate and appropriate information for families.
  • Post diagnosis care: The APPG has called on NHS England, NICE and Genomics England to develop a pathway (or NICE guidance) for healthcare following diagnosis. It is essential that the Department of Health and Public Health England show leadership in the collecting of rare disease data to begin the process of developing prognoses for future families found to have the same gene mutation.

To read the report in full please click here.


Guest Blog: Joel 

This blog post is a transcription of a speech made by Sarah Oakes at the All Party Parliamentary Group on Rare, Genetic and Undianogsed Conditions meeting in Westminster on Wednesday 4 May 2016. Sarah Oakes is the mother of a child with an undiagnosed genetic condition and a member of SWAN UK (syndromes without a name). We would like to thank Sarah for telling her story at the APPG meeting, and for allowing us to post her speech here as a blog. 

Joshua Tucker

Joel is a funny, loving, happy, cheeky boy, who loves music and singing, and who has a passion for trains and buses. He also has, among other things, global developmental delay, autism, a learning disability, and an underlying genetic condition, which is effectively still undiagnosed.

Joel and his twin brother Toby were born in July 2009. The pregnancy passed fairly uneventfully until 24 weeks, when a routine scan showed that Joel’s growth was very slow, and from then on he was monitored very closely. When he was born, we noticed that he and his brother looked very different. Joel was considerably smaller, had a very weak cry, and was extremely sleepy. He struggled to maintain his blood sugar, and was unable to breast feed. In the following weeks Joel had issues with mucous, struggling to breathe at times, and also had reflux. But as we were busy just getting through each day with twins, as well as two older children, we didn’t dwell too much on Joel’s difficulties.

However I think subconsciously I did realise that there was something different about Joel. In the first few days after he was born, I distinctly recall googling “babies born with no eyelashes” as he didn’t appear to have any. They later appeared but they were hidden for some time due to the unusual shape of his eyes. I think, in the back of my mind, I did wonder if this was an indication that something may be wrong.

When Joel was around 5 months old, we became aware that Joel’s development was falling behind Toby’s. For example, when placed on his tummy, he couldn’t push up and raise his head as Toby now could. I took him to the health visitor, and was told not to compare the two of them, that all babies develop at different rates, that boys can be slower, etc. All things that we would hear many more times in the future. However the health visitor did agree to refer him to physiotherapy, to “reassure us”. Joel was seen by a lovely physio, who then saw him regularly every two weeks, and gave us a programme of exercises to do with him, as it was clear that his physical development was delayed, and he had hypotonia and hypermobility.

By the time that the boys were coming up to their first birthday, the physio had become concerned about other areas of his development. He didn’t like any loud or sudden noises, and hated the sound of people laughing. He was often unsettled and upset, but didn’t like being comforted or any physical affection. He rarely made eye contact, and wasn’t babbling. He had begun to have a range of seizures. She asked if she could refer him to the community paediatrician for an assessment.

At the end of a two and a half hour appointment with the paediatrician, she asked us if we had any idea of what might be going on with Joel. I said that I suspected that he was on the autism spectrum, which had been in the back of my mind for a few weeks. She said she agreed, however she said she felt he also had some sort of genetic syndrome. She pointed out all his “dysmorphic features” which indicated that there was an underlying cause. She highlighted his unusually shaped eyes, which were widely spaced, his head shape, his low set ears, his lips, his hands, his feet – it felt like suddenly there was something wrong with every part of our perfect little boy. She said she wanted to send blood off for genetic testing, and referred us to the regional genetics service.

We came back from that appointment reeling. Several weeks later the results of the genetic testing came back, and we were delighted to see that nothing had been found. The paediatrician must have been wrong! Yes, there was still the likelihood that Joel had autism, but at least there wasn’t anything else going on. A few weeks after that we had the appointment with the geneticist. We assumed this would now just be a formality – the tests had been fine, so surely she would see us briefly and discharge us. However the reality was very different. She explained to us that Joel’s dysmorphic features led her to believe that he definitely had some sort of genetic syndrome, but she had no idea what it was. She said that it was quite common for initial tests to come back normal, and that finding the answer could be like looking for a needle in a haystack. She ordered further, more in depth tests, and said she would see him again in a few months.

All of a sudden, we had entered the world of the unknown. By this time Joel was seeing a whole range of professionals, and attended our local children’s development centre several times a week for a variety of groups and appointments. We asked them all, “will Joel walk”? “Will Joel talk”? “How will he develop”? None of them could answer these questions, because no-one knew what was wrong with him. All they could say was that they were giving him all the input they could in these early years, to maximise the chances of him reaching his potential.

The next round of tests all came back normal, and in amongst all my googling, in 2011 I found SWAN UK – a group specifically for families with children with undiagnosed genetic conditions. I couldn’t believe it - there were others out there in a similar position to us! It felt like such a relief to finally belong somewhere. From getting involved in SWAN UK, I heard about the Deciphering Developmental Delay (DDD) study. To me, this sounded perfect for us, and a way of hopefully getting a diagnosis. We saw the geneticist again, and she had exactly the same thought. We were enrolled on the study and gave our samples there and then. It was simply a case of waiting from then on.

Many people who are not in our situation find the need for a diagnosis difficult to understand. What does it matter? Joel will still be the same boy with or without a diagnosis. For us, a diagnosis has always been important. It is about understanding why Joel has the difficulties he does. What caused them? What went wrong? Is it something that could be passed on to future generations? It would also be helpful to be able to explain to other people why Joel is how he is. So many times we have had people say to us that because the tests have come back fine, that must mean that there is nothing wrong with him. Others say that they think he is fine, that he is just developing at a different rate to Toby and not to compare them, that boys tend to be slower to do everything, and he will “catch up”. It would be good to have some sort of diagnosis to be able to challenge these perceptions.

To me, a diagnosis is a bit like a coat hanger. Over the first year of his life, Joel had a whole range of symptoms, issues, and needs. It would have been nice to have been able to hang these all up together, in a co-ordinated way, to form one “outfit” that would be recognisable, and would neatly explain Joel to the world in general. Instead, it felt like we had all the symptoms, issues and needs in messy piles all over the floor, that we kept tripping over, and that kept getting in the way of our day to day life. There was no way of hanging them up neatly. I spent hours and hours googling, hoping that I could do what the doctors couldn’t, and find a syndrome that Joel fitted into – a coathanger that would allow us to tidy up the mess on the floor into the right outfit for Joel.

In the meantime, Joel made good progress; learned to walk, and started to talk, all at his own pace. We had to make the decision about schools – we had always envisaged both boys going up the road to our local primary school together, but we had to face the fact that mainstream school may not be the best option for Joel. We visited our local special school, and realised that this would be able to meet Joel’s needs, and give him the best opportunities to grow and develop. This made us feel very sad, but we were glad to have access to such a fantastic school.

We continued to wait for the results of the DDD study. Each day, wondering if the post would bring that letter. Like most parents of children with additional needs, we get a great many letters addressed to “the parents of Joel Oakes”, and there were many times my heart skipped a beat, thinking that one of these might be the letter bringing the news we were waiting for.

Then, two and a half years after we gave our samples, That Letter arrived, telling us that the study had found a probable cause for Joel’s difficulties. We had to wait a few, very anxious weeks, for an appointment to see the geneticist. When we saw her, she asked if we had heard of Bardet-Biedl Syndrome. We hadn’t. A mutation had been found on BBS9, one of the genes associated with this syndrome. She said often people had extra fingers or toes, and she actually checked again that he didn’t, and also that there is a tendency towards obesity. She also mentioned that issues with eyesight can develop. She sent us away to read up on it, and said that there was a specialist team at Great Ormond Street for the syndrome, and she would discharge us and refer us to them.

After much googling, we learnt that the majority of people with the syndrome develop a rod cone dystrophy leading to visual impairment, and can have kidney problems, but generally the prognosis was good, and all in all it wasn’t a bad diagnosis to have. It was evident however, that Joel didn’t appear to be typical for the syndrome. Coming back to the coat hanger analogy; we hung all his issues up on the hanger we had been provided with, but somehow it didn’t end up looking like the outfits in the pictures. It all looked a bit mismatched, with bits missing. Was this really the right coat hanger?

We subsequently attended the multidisciplinary clinic at Great Ormond Street, where we saw a wide range of professionals. The geneticists described him as a conundrum, as he clearly wasn’t a typical case. They decided to repeat the genetic testing to confirm the DDD results, and take it from there. They also enrolled us on the 100,000 genome study, to see if there was another cause for his difficulties. Specialist eye tests showed some issues with the rod cells on his retina.

Eventually we were told that the tests confirmed the DDD results, however the mutation is one they have never seen before, so because of his presentation they cannot confirm or deny the diagnosis.They would await the 100,000 genome results and then decide what to do with him. After thinking we had our diagnosis, we were back into the land of the unknown. This felt like a real blow. We had pinned all our hopes on the DDD study, yet here we were back at the beginning again.

Ultimately, a diagnosis will never define Joel, and we now acknowledge that we may never get the answer we want. At present, all his issues, plus the coat hanger we have been given, are sitting in a box in the corner of the room. For my own peace of mind, I have had to tidy it all away as best I can, otherwise the whole process of searching for a diagnosis becomes overwhelming, and detrimental to our lives. Yet still, I look out for a letter in the post every day, and hope to one day get the coat hanger that will allow us to hang everything up neatly and in a way that explains Joel. He continues to baffle doctors, just recently further eye testing revealed results that a very experienced consultant has never seen before and cannot explain. He has regular, sudden episodes of illness that don’t appear to have particular cause and no-one can explain.

I hope all this doesn’t sound too negative. Although we are having a bit of a bumpy journey towards diagnosis, we are grateful to be able to participate in these ground breaking projects, and we firmly believe that this research is gathering information that will be life changing in terms of both diagnosis, and care and treatment, for a great many families both now and in the future.


Tell NHS England how to decide which specialised services to fund

Deadline: Wednesday 11 May 2016

NHS England is currently consulting on a method for their Clinical Priorities Advisory Group (CPAG) to use when making decisions on which services or medicines should be prioritised for funding. This method is to be used for recommendations for the 2016/17 round of new investments in specialised services. How this method works will be of great importance to groups with treatments either currently being assessed or that will be assessed before 2017/18. We will of course be responding to the consultation; however we would also encourage anyone likely to be impacted by the decisions to express their opinion.

Specialised services are those which are required by relatively few individuals, require specialised and relatively rare expertise, and tend to be relatively expensive. NHS England is the only national commissioner of specialised services in England. The majority of patients affected by rare conditions will access the medicines they need via NHS England’s specialised commissioning process. The process for deciding which new medicines or interventions are given funding through the NHS is a lengthy and complex one.

In 2015, NHS England agreed on the principles underpinning the process for prioritising services and interventions for funding, relative to others. They are now looking to develop a method to apply these principles. It is vitally important that the method used by NHS England is transparent, rational and consistent, particularly as there is a backlog of treatment and service proposals to be considered. It is highly unlikely that NHS England will be able to fund all the policies put forward by clinical reference groups within their limited budget.

The proposals describe a process by which CPAG will be asked to categorise each policy proposal as high, medium or low patient benefit, taking into consideration the quality of the evidence available, showing clinical effectiveness. The policy proposals will then be placed on a matrix, with the incremental benefit of the treatment or service on the x axis, and on the y axis the incremental cost, determined by the cost per patient over five years. The proposals will then be batched into five priority levels of relative prioritisation, based on the position of each policy proposal on the matrix. Before making its final recommendations CPAG will also consider whether any adjustments should be made to the baseline recommendation based on NHS England’s broader strategic ambitions such as reducing health inequalities.

Due to the relatively high costs of many treatments for rare conditions, NHS England has acknowledged that many of these would be unlikely to receive a baseline relative prioritisation of above level 3. This is particularly the case as the description of patient benefit will not include any non-clinical factors. Although it is not clear yet which prioritisation bands are likely to be fully or partially funded. In order for the process not to systematically disadvantage rare disease patients, the adjustments applied would need to be substantial. We are also concerned about the possibility that CPAG may make the decision not to fund a treatment which fits within the funding envelope, based on the relative level of benefit, even though all proposals which have been put to CPAG will already have passed through a number of filtering and prioritisation stages.

For more on why we consider this consultation important, see our Director’s recent piece in the Guardian.

If you would like to discuss this work please contact out Policy Officer,


Help us produce the information you need

One of the aims of our team is to improve the lives of those affected by genetic conditions by ensuring that high quality information is available to all who need them. In order to help us meet this objective we produce patient information ourselves. You can find that information on our website. We are reviewing that information and need your help to ensure that the information we produce is of high quality and meets your needs.

Would you be available to review the information on our website?

You can decide how much time you can spare and how often you want to be contacted. You can do it from the comfort of your home. You don’t need any previous experience – we want to know if the information we produce and the language we use is clear. If you want to help us please fill in this short survey.

If you want more information, please contact or call our offices 02077043141


Genome SeqWeek

The second annual Genome SeqWeek took place on the week beginning Monday 7 March 2016. The theme of the week was genome sequencing in cancer, and saw the launch of our new Patient Charter, titled Genome Sequencing: what do cancer patients think?, and also provided an opportunity to meet with a range of groups with an interest in genomics research.

Engaging with patients 

 On Monday 7 March, we travelled to the Sanger Institute, in Hinxton, with eighteen of our participants from the My Cancer, My DNA project, to hear about the work of the Institute’s cancer researchers. We were treated to a talk from Dr Serena Nik-Zainal, whose work focuses on inherited cancers, and a lunch with the rest of Serena’s team. The day ended with a tour of the campus, including the sequencing room where tens of thousands of genomes will be sequenced as part of the 100,000 Genomes Project .

We also found time on Monday to hold a Twitter chat all about cancer genomics and what it means for patients, with clinical geneticist Dr Shane McKee, Bloodwise’s Head of Research, Matt Kaiser, and BRCA Umbrella founder, Caroline Presho. Over an hour, we covered topics including what sequencing involves for the patient, and where current research is looking the most promising for clinical applications.

The Patient Charter

The Charter, which makes 9 recommendations for consideration before genome sequencing becomes widely incorporated into NHS services as part of clinical cancer care, was developed through a series of online activities completed by over eighty people with experience of cancer as a patient, or as a family member of a patient. Through January and February, we asked participants to share their experiences of, and views on, some of the practical, ethical, and societal impacts of genome sequencing. We were helped by our working group of cancer charities: Cancer Research UK, Bloodwise, Cancer52 and Breast Cancer Now. The resulting Charter highlights the common themes drawn from our findings.

We found that 92% of our participants would share their health and genetic data for research, but would require reassurance of reliable data safeguarding and clear outlines of research aims before doing so. We also found that most cancer patients would want to know about additional findings found during genome sequencing as part of cancer care, and we recommend more work be undertaken to establish how best to deliver such findings, and when would be the best time to inform patients of findings that could cause worry and distress to those already undergoing treatment for a life threatening disease. Our Charter also highlights the importance of developing a streamlined pathway for cancer patients who have had other genetic conditions identified, to ensure appropriate care is provided in a timely and priority driven manner, by health professionals who are expert in their field. We launched the Charter on Tuesday 8th March at the Institute of Cancer Research.

George Freeman MP introduced the Charter, before our panel of experts discussed the findings and recommendations. Our panel included:

Prof. Nazneen Rahman, Head of the Division of Genetics and Epidemiology at the ICR and Head of the Cancer Genetics Clinical Unit at The Royal Marsden NHS Foundation Trust

Mil Vukovic Smart, Policy & Public Affairs Manager at Bloodwise

Vivienne Parry OBE, Head of Engagement at Genomics England

John Solly, Cancer52 board member and director of the Myrovilitis Trust

Zoe Molyneux, Senior Policy Adviser at Cancer Research UK

Dr. Lisa Walker, Clinical Genetics Consultant and Cancer Lead at Oxford University Hospital

The launch was well attended, and questions from the floor ensured a lively discussion.

Engaging with the public

Wednesday saw us head to the Wellcome Collection on Euston Road. We collaborated with the Wellcome Collection on their March Packed Lunch. The Packed Lunch events are held at the Collection once a month, and provide the visiting public with the chance to hear, for free, from a local researcher. We were pleased to support Dr Charlotte Pawlyn, an Institute of Cancer Research scientist whose team is looking for mutations in myeloma patients that could be targets for treatments. Charlotte spoke for half an hour about her work, before the audience were invited to ask their own questions. The event was recorded, and will be available as a podcast soon.

To draw the week to a close, we hosted a science café in Shoreditch on Thursday 10 March. With free entry to the general public, this was a chance to raise awareness about cancer genomics research to a wide audience, and to also hear from the public what they think about genome sequencing in cancer.

We invited Dr Katie Snape, lead consultant in cancer genetics at St George’s University Hospital, and Dr Clare Turnbull, cancer program lead on the 100,000 Genomes Project, to speak with our audience. Katie spoke about the changes in DNA that can give rise to different cancers, and how she is using this knowledge in the clinic. Clare took over to talk through some of the research in which she has been involved, and to tell us all about the 100,000 Genomes Project. The interval was a chance for some audience participation.Attendees were invited to take some time to think about some of the questions raised in our Charter, displayed as posters around the venue, and to note down and share their idea on a post-it note stuck to our posters. The audience got stuck in, and shared some interesting and varied views. A vibrant Q & A brought the night, and Genome SeqWk, to a close for 2016.

To see all of our Tweets from our events during Genome SeqWeek, you can search #GenSeqWk on Twitter.

If you would like to find out more about the Charter, or the My Cancer, My DNA project, you can email .

My Cancer, My DNA is funded by the National Institute for Health Research (NIHR) BiomedicalResearch Centre at The Royal Marsden NHS Foundation Trust and The Institute of Cancer Research.

We were pleased to be working with Cancer52, Bloodwise, Breast Cancer Now, and Cancer Research UK on this project.




Guest Blog: What will a National Congenital Anomalies and Rare Disease Registration Service mean for those affected by birth defects? 

To celebrate World Birth Defects Day we asked the team at Public Health England to talk about the benefits that NCARDRS will bring to patients and families who are affected by congenital anomalies. 

The 3rd of March is World Birth Defects Day and many families across the UK will be taking part in events to raise awareness of this important issue. Up to 1 in 20 babies in the UK are born with a birth defect (also known as a congenital anomaly) and congenital anomalies are one of the leading causes of perinatal and infant mortality. Babies that survive and live with these conditions often have long term disabilities and may have a shortened life span. For some congenital anomalies the cause is known, but for most there is no known cause, and it may be that they are caused by a number of factors.

The National Congenital Anomaly and Rare Disease Registration Service, NCARDRS, was launched by Public Health England (PHE) on the 1st of April 2015, and now incorporates the regional congenital anomaly registers and the National Down Syndrome Cytogenetic Register (NDSCR). In those parts of the country where there was no data collection, new regional teams have been established meaning that, for the first time, we have 100% geographical coverage of congenital anomaly surveillance across England.

The national registration of these conditions and the collection of information about them is important for a number of reasons;

Data from the NCARDRS database will be used as a resource by patients, clinicians and researchers to advance our knowledge of congenital anomalies, their causes and methods of prevention. The data collected will be used to facilitate improvements in medical treatments, clinical care, and the development of better care pathways.

PHE can also use the data to carry out surveillance of congenital anomalies to look for trends, for example we can monitor changes in the number of babies born with congenital anomalies, or changes in the areas where they are born. This information can also be used to help NHS commissioners to plan and develop regional and national NHS services.

Collecting information about babies born with congenital anomalies is essential for monitoring the performance of antenatal and newborn screening programmes, ensuring that the most effective testing methods are offered to pregnant women and parents. Increasing our knowledge of congenital anomalies helps clinicians to provide improved counselling for women and their partners when considering screening tests, and enables health professionals to give more accurate advice to families about their chances of having a baby with a congenital anomaly.

In order to pool data across a wider geographical area and to share expertise, NCARDRS shares data on congenital anomalies with EUROCAT (European Surveillance of Congenital Anomalies), a European network of population-based registries for the epidemiologic surveillance of congenital anomalies.

The national registration of congenital anomalies through NCARDRS is made possible by the dedication of the many notifying clinicians in hospitals across the country, and by the families who agree to their, and their child’s data being used in this way. Their contribution will help us to achieve our overarching aim of improving the knowledge, treatment and prevention of congenital anomalies, thereby improving the lives of all those affected by a congenital anomaly. 


Raising awareness of rare disease in Wales

On Tuesday 23 February, the first Rare Disease UK parliamentary reception took place at the Senedd, National Assembly for Wales. The event was sponsored by Shadow Health Minister, Darren Millar AM and attracted stakeholders from across the rare disease community including patients, carers, patient organisation representatives, health professionals, academics and industry.

Rare Disease UK/Michael Hall

Darren Millar AM welcomed delegates to the event and Alastair Kent OBE, Director of Genetic Alliance UK and Chair of Rare Disease UK, informed those in attendance about our new report, 'The Rare Reality'. The event included presentations from speakers including Dr Andrea Edwards, Clinical Director of the All Wales Medical Genetics Service, Tony Esmond, a patient affected by the ultra rare condition Alkaptonuria and Ceri Hughes, mother of Isaac who has the ultra rare condition Moebius Syndrome and has set up the photography project Same but Different to highlight the people behind rare conditions. 

Alongside the photography exhibition, we had an exhibition of the Expressions of Hope art work - this project was an opportunity for those within the community of rare genetic conditions to tell their own unique story through art. Both exhibitions were extremely popular with delegates and will be travelling around Wales and other parts of the UK over the next few weeks so there will be other opportunities to view them if you couldn't attend our first event!

Rare Disease UK /Michael HallRare Disease UK /Michael Hall

Our Development Officer for Wales will be exhibiting some of the photography at a stand at the Concourse in the Heath Hospital, Cardiff on the 2nd, 3rd and 4th of March so please feel free to pop along and have a chat with her there.

At the reception, Alastair also launched our Pledge for Patients campaign for Wales. The campaign involves canvassing support from prospective parliamentarians to ensure that whoever forms the next Government they will be committed to ensuring patients affected by rare, genetic and undiagnosed conditions get access to the right care and treatment. It has already attracted support from a number of Assembly Members who attended our Welsh reception.

Rare Disease UK /Michael HallRare Disease UK /Michael Hall

We would like to extend our thanks to everyone for their support in making our Welsh Rare Disease Day Reception 2016 the best yet!

Photography exhibition raises awareness of rare diseases 


Photographer Ceridwen Hughes set up the organisation Same but Different in order to use the arts to raise awareness of disability and counteract prejudice that exists. Her latest project specifically focuses on those with rare diseases.

Ceridwen’s own son, Isaac, himself has Moebius Syndrome which causes facial paralysis. Isaac was not diagnosed until 8 months and at that time they were simply given the name of his condition and that was all. They were given no information and had no support. Ceridwen explained that she felt it was very isolating.

"People often make judgments based on what they expect him to be able to do and sometimes they do not take the time to get to know the real child," she said. "Isaac is funny, determined, bright and really caring. Those who do not see beyond his condition are poorer for it."

Through the ‘Rare Project’ Ceridwen is taking photographs of people with rare conditions and accompanying it with background information so people can learn not just about the condition but the person behind it too.

During each photo session, Ceridwen works hard to create an enjoyable experience and capture "the real person."

"I want to try to break down some of the barriers that exist for those with disabilities and rare diseases in particular. Often the person taking part in the project has never had a portrait taken before because they may be nervous or have challenging behavior. It does not matter what condition each person has, they are ultimately still people with their own likes and dislikes and they deserve to have a voice."

Ceridwen’s hope is that through the project people take the time to look at the images, read the story and if it just makes people stop and think, then this initiative will have been a real success.

Same but Different have been working with a number of organisations including Genetic Alliance UK and Climb and in the lead up to Rare Disease Day there is the opportunity to see some of the images from the Rare Project across the country, starting at Chester Zoo from the 27th to 4th March. Further details can be found on their website.


EUPATI launch toolbox to help patients get involved in medicines development 

There is a lot of energy and enthusiasm for involving patients in medicines development – but patients need support to get involved. In 2011 we were one of the patient groups that joined a varied mix of organisations across Europe to kick off the EUPATI project. Our partners included academics and pharmaceutical companies, and our aim was to make good quality education and training available for patients who wanted to better understand the development of medicines. Patients (and carers, and people from patient organisations) who wanted to go a step further and get actively involved in medicines development would be offered an intensive training programme.

It was an ambitious programme, but four years and a huge amount of time and energy later, EUPATI is now running its 15-month training programme for the second time, with 60 trainees from across Europe – it includes face-to-face training, and supervised online education. Today (27 January 2016), a new online toolbox of information will be launched. Avoiding technical jargon and available in seven European languages, it covers all stages of medicines development from early laboratory research to clinical trials, from licensing decisions and assessment by national health systems.

National teams have been set up to help patients to engage with and influence medicines development: they are talking with national medicines agencies (the bodies that assess medicines for use in individual countries) to encourage more patient engagement, plus government departments, universities and pharmaceutical companies. They have run many activities such as webinars, information days and social media campaigns. The UK’s national team can be followed on their website and on twitter by following @EUPATI_UK.

The EUPATI partners are also producing an array of materials to further support patients getting involved: three webinars have been run covering patient engagement in clinical research, ethical review and health technology assessment (the recordings are available online); guidelines for patient involvement are being developed; and recently the team has published several academic articles about the views of patients and of pharmaceutical professionals and how they see the future of patient engagement.

The EUPATI project is proving to be hugely positive for patients and is creating a buzz: our focus now is to develop a way to sustain the training and education beyond 2016, so we that can continue to support patients and ensure they have a voice in medicines development.


This article was written by , our Senior Research Manager. 


We‘re helping patients form support networks

When living with a rare condition, it can be very easy to never meet another person with the same condition, and information and support can be scarce and difficult to access. Patient groups can be invaluable in this situation, bringing patients together to share information and advice.

As an alliance of over 180 patient groups, we see daily the positive impact such groups can have on individuals through offering support, and on wider society through campaigns and lobbying. This is why we are supporting patients who have no dedicated organisation to set up their own patient group.

Our project, Helping Patients, has already been running successfully in Scotland and Wales, and we are now launching the project in England to help develop patient groups for conditions where none exist. From finding others to join the new group, to booking a first meeting room, to spreading the word on social media, setting up a patient group from scratch can be a difficult process. We want to help by using our greatest resource – our member groups who have done it all before.

The knowledge and experience gathered from member groups, both large and small, has helped us understand how to establish a group that can make a difference to the lives of those living with a genetic condition, whether that’s by simply creating Facebook group to share information, or running national campaigns to change the way the NHS works for patients.

If you are living with a rare condition with no patient group, or if you are a patient group that represents one or more conditions that you feel could benefit from its own, focused support network, we want to hear from you. To find out more about Helping Patients, and about getting started on running a patient group, email our Public Engagement Officer Angela, at .


Rare Disease UK launch second patient experiences report “The rare reality – an insight into the patient and family experience of rare disease”

Following the publication of the UK Strategy for Rare Diseases in 2013, rare conditions are now higher up the agenda for clinicians, policymakers and the media than they have ever been. Our campaign Rare Disease UK (RDUK) have carried out a survey to get an up to date picture of patient experiences to see if anything has changed since their first report on patient experiences in 2010. The report launched today at the Royal College of Paediatrics and Child Health, surveys 1200 patients, to monitor the early impacts of the strategy, and this heightened awareness of rare disease.

The findings of the report show that very little has changed for rare disease patients in the last 5 years. Patients are still experiencing difficulties in diagnosis, accessing information about their condition, receiving appropriate coordinated care, accessing treatments and finding out about research. The report highlights the reality of rare disease patients, putting an emphasis on their experiences in their everyday lives. The reality is that changes in the lives of patients, as a result of awareness, are not living up to our expectations. This makes the implementation stage of the UK Strategy for Rare Diseases even more important.

Key findings of the report include:

  • Patients and families are given very little information about their condition. 70% of respondents did not feel they were provided with sufficient information following diagnosis.
  • Patients are frequently left to research their condition alone.
  • Patients often become an expert in their own condition and are often left to inform and educate the medical professionals they encounter.
  • Patients face significant delays on their journey to secure a diagnosis. 45% of all respondents waited over a year.
  • The majority of patients (52%) receive at least one incorrect diagnosis/diagnoses, and visit numerous doctors, before they receive a final diagnosis. 37% receive 3 or more incorrect diagnosis.
  • Patients can experience issues in persuading medical professionals to believe their symptoms and describe how their condition is initially written off as ‘psychological’ or, parents are described as ‘neurotic’.

Alastair Kent OBE, Director, Genetic Alliance UK said “Progress is being made in policy – but this needs to be implemented to positively impact patients on the ground. Any positive developments for rare disease patients do not appear to be uniform across the countries and regions, or between different rare conditions. We need to ensure that all patients have fair access to appropriate care and treatment for their rare disease – no one should be left behind because they are ‘rare’.

The challenge now is to maintain progress were it has been made and encourage progress where it has been slower, to ensure the promise of the UK Strategy for Rare Diseases becomes reality in the years ahead (so that, hopefully, in 2020 we can report more positive changes).

Click here to read the report in full.


Sobi Charity Ball

When: 6.30pm-Midnight, Friday 8 April 2016

Where: Homerton College, Cambridge

Registration is now open for the Sobi Charity Ball. Proceeds from the event will be going to Genetic Alliance UK, Cambridge Rare Disease Network and The Haemophilia Society.

Click here for more information. 


Update from the 2nd Annual Patient Day for Inherited Eye Disease

Last Friday, over 80 patients, families, patient organisations and health professionals gathered for the 2nd Annual Patient Day for Inherited Eye Disease in Wales.

The event included presentations from prestigious speakers within the field presenting on topics such as access to genetic counselling services, access to work, the Wales low vision service and research priorities. Alastair Kent, Director of Genetic Alliance UK, provided an update on the progress made so far in implementing the UK Strategy for Rare Diseases.

Genetic Alliance UK has been working with a group of patients in Wales affected by a number of different rare inherited eye diseases to develop a patient support group. A key element of the day was an opportunity for patients to meet with others with the same rare condition. There was also a patient panel and Q&A session with the audience.

If you would like to develop support for your organisation within Wales, please contact our Development Officer, for more information.


Update from the UK National Screening Committee conference: delivering world-class recommendations

On Wednesday 9 December 2015 our Policy Officer, Louise, attended the first ever UK National Screening Committee conference. The UK NSC is the body that makes recommendations to the government on whether a population screening programme should be implemented, based on the scientific rigour, acceptability, feasibility and cost effectiveness. The title of the conference was “Delivering world-class recommendations”, and the event provided an excellent introduction into the UK NSC’s work for all those present. Stakeholders included a wide range of patient groups, some who have been in contact with the UK NSC for many years, and some who have only recently started to work with them on issues around screening.

The morning was devoted to exploring how the UK NSC reaches its decisions on whether or not to recommend a screening programme, and the challenges and complications they face in doing so. This was discussed in the context of three recommendations that have been made in the last year, regarding possible screening programmes for atrial fibrillation and bacterial vaginosis, and the expansion of the newborn bloodspot screening programme.

In the afternoon we heard from two academics who collaborate with the UK NSC, providing research to gather the evidence used by the committee to make their recommendations. I particularly appreciated the acknowledgement of how the UK NSC’s very high evidence threshold does not always work well for rare conditions.

The conference formed part of a welcome movement in the direction of increased transparency by the UK NSC, and it was clear that the committee have taken on board some of the recommendations of last year’s internal and parliamentary review to make their processes more accessible to stakeholders.

One new development which may help achieve greater transparency is the proposed introduction of an annual call for proposals, the first of which is likely to take place in September 2016 (see the guidance here). However, it will be important for the triaging and prioritisation process to be fair and transparent, and for patient groups not to be required to have carried out substantial research for a proposal to be considered.


If you have any questions or comments about this work please contact our Policy Officer,


What is on the Horizon for Orphan and Ultra-Orphan Conditions?

Last week our Development Officer in Wales, Emma, attended an engagement event with the Welsh Health Specialised Services Committee (WHSSC) as part of their horizon scanning for orphan and ultra-orphan medicines.

The first medicine to go through the All Wales Medicines Strategy Group process for appraisal was Kalydeco (Ivacaftor) – a medicine used to treat Cystic Fibrosis for specific gene mutations. In light of the current capacity of the NICE highly specialised technologies (HST) process being around 3 appraisals per year, the importance of timeliness and equity in the consideration of access to treatments in Wales was highlighted throughout the discussions at the meeting.

NHS Wales and the NICE HST programme

In England, decisions from the NICE HST process are mandated, however, in Wales these decisions are not required to be automatically adopted. In recognition of this the Minister for Health and Social Services, Mark Drakeford has requested an inter-agency approach between the commissioner for Specialised Services in Wales and the All Wales Medicines Strategy Group (AWMSG). A procedure will be put in place that requires the production of an inter-agency briefing that will be provided to the Minister, who will then confirm whether the NICE HST decision will be adopted in NHS Wales.

It was highlighted that any information shared by NICE with NHS Wales will have all information on price redacted, whether this was commercial in confidence or not. It is therefore vital that manufacturers be encouraged to have discussions with both NICE and WHSSC in regards to price. They should also be talking to the All Wales Therapeutics and Toxicology Committee (AWTTC) in parallel with discussions at NICE so that when making an application to NICE HST there is no gap in uptake for Welsh patients when a medicine is approved.

Interim Cohort Commissioning – the “One Wales” Process

To combat the ongoing problem of medicines without a commissioning policy going through the Individual Patient Funding Requests (IPFR) route, without any prior engagement with the HTA process, there will be an interim cohort commissioning process. This is not meant to replace the formal HTA process - HTA will remain the gold standard but there will now be measures in place to make sure treatments do not fall through the cracks.

AWTTC envisage that the “One Wales” process will only be used very rarely and there would be an obligation on companies to engage with HTA within a given period.

The “One Wales” proposal was submitted to the Chief Executives of NHS Wales in November, where it was agreed in principle. However, there were two outstanding points, answers to which had to be re-submitted to the group in December.

What’s next?

Following the meeting of Chief Executives in December, if approved the process will be handed over to the AWMSG Steering Committee, which would be discussing it in February 2016.

Engagement and communication with stakeholders about this next interim cohort commissioning process will not take place until the Chief Executives of the Local Health Boards in Wales and the AWMSG Steering Committee have given the green light for its implementation.

One of the key issues arising from this meeting was the need to establish an Orphan and Ultra-Orphan Stakeholder Forum so that this important trilogue between Commissioners, AWTTC/AWMSG and Patient groups can be continued. We look forward to representing the patient perspective as part of these discussions moving forward.


Update: The policy for the One Wales Interim Commissioning Process is now available on the All Wales Therapeutics and Toxicology (AWTTC) website.

If you have any comments or questions about this work, please contact our Development Officer in Wales,

Cancer and genomics - have your say!

Genomics is becoming an increasingly important aspect of cancer prediction, diagnosis, and treatment. So what is genomics, and what can it do to help cancer patients?

Genomics is the study and “mapping” of genomes. Researchers study DNA to find out what each section of the code - each gene - is responsible for, and how all the genes work together . You can use genomics techniques to predict how well a person will respond to a treatment or find one that will work best for them. This is called personalised medicine. You can also use genomics to test how well a cancer might respond to radiotherapy. For some patients, that can mean far fewer radiotherapy sessions.

The potential of genomics is huge, leading to more precise diagnostics for earlier diagnosis, new medical devices, faster clinical trials, new drugs and treatments and potentially, in time, new cures. This is why the Department of Health is starting to draw a map of thousands of genomes from NHS patients in the 100,000 Genome Project. The aim is to create a new genomic medicine service for the NHS, transforming the way people are cared for.

While whole genome sequencing holds great potential, it is not without risk. Whole genome sequencing can reveal mutations that indicate susceptibility to other, unrelated genetic conditions, and lead to difficult decisions about changes to lifestyle, medical treatment, and what to tell family members. We think it is important to explore the societal, ethical and practical implications of cancer genomics, and make sure that the patient voice is heard. This is what we intend to do in our project, My Cancer, My DNA.

During the project, we will be tackling issues such as:

Would you want to know if you had an inherited risk of developing a genetic condition?

Who should tell your family if you have an inherited risk of a cancer that they might also share?

How should your data be used after undergoing genome sequencing?

By taking part in our project, and responding to questions like these, you can help represent cancer patients to those with the power to make changes to how we implement new tools in cancer care.

As a project participant, we’ll ask for around 45 minutes of your time once a week, over six weeks. You’ll be asked to complete a series of online activities, which can be done anywhere and anytime you like, as long as you have access to the internet. The activities are designed to be interesting and engaging, but most importantly, to give you the chance to be heard.

How can I get involved in the My Cancer, My DNA project?

You can read our flyer to find out more about what is involved as a project participant, and register your interest using this form. You can also contact us by phone with any questions, on 02077043141, or email our Public Engagement and Project Officer, .

My Cancer, My DNA is funded by the National Institute for Health Research (NIHR) Biomedical Research Centre at The Royal Marsden NHS Foundation Trust and The Institute of Cancer Research.

We are pleased to be collaborating with Bloodwise, Breast Cancer Now, Cancer 52 and Cancer Research UK on this project.

Organ donation is changing in Wales!

There are currently 6642 people across the UK waiting for an organ transplant – some of them will die waiting for that call.

Many of our member organisations represent patients with conditions that can cause damage to certain organs. This means that many of the patients they support may require an organ transplant at some point in their lives. The number of people waiting for organs considerably outstrips the number of organs that become available for transplant.

In the UK population 70-90% of people report being in favour of organ donation, but in 2012 only 29% of adults were actually on the Organ Donor Register. This means that people who believe in organ donation do not get the chance to donate their organs because they have not made their wishes known, and it is assumed that they are not willing to donate. Currently the UK arrangements mean that if someone passes away without registering a preference, the responsibility to decide whether or not organs should be donated is passed to their close relatives. It can be hard for families to decide whether to donate their loved one’s organs after their death if they had not registered a choice.

From today, Tuesday 1 December 2015, the way you become an organ donor in Wales has changed. The assumption upon death will be that you have deemed consent, unless you have registered a desire not to donate or have made your wishes clear to someone before your death. This is called a ‘soft opt out’ system of consent.

These changes will apply to all adults who are over 18 years of age, have been living in Wales for over a year and are considered to have the mental capacity to consent.

Organs donated in Wales will still go onto the centralised list for the UK – so it is still really important that interested groups and patients continue to push for change in the other three nations of the UK. Scotland and Northern Ireland both have private members bills introducing opt out organ donation currently progressing through their devolved legislative bodies and we’ll be watching closely to see the outcome of these.

Whether you want to be an organ donor or not, and whether you live in Wales or not, it is important that everyone starts talking to their loved ones about organ donation. You can join the donor register here, or register your decision here if you live in Wales.


If you have questions or comments about this work please contact the Genetic Alliance UK team

Drug Repurposing & Rare Diseases

Treatments for rare and genetic conditions are often few and far between, so it is important for us to be examining all the different ways that therapies might become available to our community in the future. To that end, Richard Le has written a blog about repurposing medicines for rare diseases. Richard Le is a Junior Scientist at SOM Biotech, a clinical-stage biopharmaceutical company specialising in the repurposing of drugs for new indications. Richard is part of the R&D unit, responsible for identifying potential therapeutic candidates for specific rare diseases.  

Drug repurposing is the process by which a treatment already used for a certain condition is used to treat other diseases, expanding the range of use of the medicine.

Drug development incurs a high level of risk and is prone to failure, the process normally spans between 12-16 years. Drug repurposing can have many advantages, including bringing this time scale down by roughly 8 years. This is because the repurposing of a previously licensed drug, for a different indication, reduces the time and money spent in research, development (R&D) and clinical trials. Phase I clinical trials can often be bypassed as a result of previously-established drug safety profiles for their original indications. Although still prone to risks, these are significantly lower in comparison to the traditional drug development processes.

Examples of successful repurposing include thalidomide, formerly used for morning sickness, now used to target multiple myelomas (a group of rare cancers). And perhaps one of the most successful examples in medical history: siledenafil (better known as viagra), which was originally destined for angina but is now utilised for erectile dysfunction and pulmonary arterial hypertension (a rare disease). Various groups are exploring drug repositioning opportunities throughout the scientific community, including in the pharmaceutical/biotechnology industry.

Within the last 20 years, R&D investment by the pharmaceutical industry has increased while the number of therapeutics approved has gone down. This is an obvious problem for patient communities with little or no treatments, such as the rare disease community. In order to be more efficient and to maximise investment, big pharma has turned towards repurposing – many companies have now created specialised research units or departments, and numerous large and medium size pharmaceutical and biopharmaceutical companies are using this developmental approach. Small companies specialising in drug repurposing have recently appeared, such as: Biovista, Anaxomics Biotech SL, Horizon Discovery and SOM Biotech – whom I represent.

Recently SOM Biotech successfully completed a Phase IIa clinical study for a repurposed therapeutic product for transthyretin amyloidosis. At SOM Biotech, we are now in the midst of launching a crowdfunding campaign to start new R&D projects in pediatric rare diseases. Numerous pharmaceutical companies, large and small, have invested heavily within the sector.

Despite not being a replacement for traditional therapeutics development, drug repurposing certainly holds promise for the rare disease community.

“What is a Centre of Excellence?”

At Genetic Alliance UK we get asked this question a lot. Many of the patients we work with are not sure what type of service a Centre of Excellence provides and whether the hospital they attend is a Centre of Excellence. This is understandable as there is no official definition for a Centre of Excellence. There are, however, a number of helpful documents we can use to understand what a Centre of Excellence is and what it should provide for patients affected by rare conditions. One of these is the ‘UK Strategy for Rare Diseases’ - published by the UK Government to improve health and social care for the 3.5 million people who will be affected by a rare condition at some point in their lives.

A Centre of Excellence is essentially a specialist clinic where expert health professionals (doctors, physios, speech therapists etc) come together to provide the very best care and treatment for patients affected by conditions that affect a number of organs and tissues (multisystem disorders). There are different centres for different types of conditions.

Centres of Excellence can be virtual networks of expert health professionals (based at a number of connected hospitals) or can be based within one hospital building. They should work with local healthcare services to manage a patient’s condition. The ‘UK Strategy for Rare Diseases’ lists a number of key characteristics that every Centre of Excellence should have. For example, centres should provide coordinated care, make arrangements for children to transition into adult services, and be engaged with people with rare conditions.

Centres of Excellence should also have a sufficient number of patients under their care - they can’t say they are an expert based on one patient!

They also have to be doing research, because research into rare diseases is vital to improve diagnosis, care provision and to enable the development of new treatments. They can do this in a number of ways, such as clinical research within the centre or supporting registries to collect and share information in a safe and secure way to help other researchers better understand conditions. Centres of Excellence are great places to do this because they bring together both patients and clinical expertise under one roof.

Alongside the recommendations identified in the ‘UK Strategy for Rare Diseases’, our study found two additional characteristics that every Centre of Excellence should have. They are that: Centres should provide education and training for healthcare professionals to share expertise; and that they should share knowledge with other Centres of Excellence and specialist clinics to make sure the best rare disease care standards are available to all.

It is important to note that no one is in charge of labelling a Centre of Excellence and it’s up to each individual specialist clinic to decide if they want to call themselves a Centre of Excellence. There are many specialist clinics that offer excellent care, and meet the criteria of a Centre of Excellence, but have decided not to use the term.


This article was written by our Public Affairs Manager, Farhana. Please get in touch withif you have any questions about Centres of Excellence.

The Accelerated Access Review release their interim report

Last week the Accelerated Access Review (AAR) interim report was released. We welcome the review's acknowledgement that patients must be at the heart of any effort to improve access to innovative technologies, which was demonstrated by their decision to make the first proposition of the report "Putting the patient centre stage".

However, this proposition is far less detailed and elaborated than others, particularly propositions four and five. This needs to be more than just lip service, and we will be strongly encouraging the review team to elaborate more clearly how they are proposing to strengthen patient voice at every stage of the innovation pathway.

In our response to the initial phase of engagement we told the AAR team of our support for the application of adaptive licensing pathways and early access schemes, with appropriate safeguards and surveillance, as a means of accelerating access to transformative medicines for patients with rare and genetic conditions. Consequently we are cautiously optimistic about the proposed accelerated pathway contained in proposition two of the interim report. How effective this is at improving access to innovative technologies for patient with genetic, rare and undiagnosed conditions will depend on how the "most promising products" are identified for access to this system and the extent to which it can cope with the evidence gaps that so frequently occur with treatments for small patients groups.

Proposition five is the most fully developed of the interim report, and is described as underpinning the other four propositions. It lays out a proposal for a new system architecture, involving a network of Innovation Exchanges located in Academic Health Science Networks, which link to a national level Innovation Partnership responsible for supporting the introduction of innovative technologies. It is not clear how this would fit within and interact the already overly complex system for commissioning treatments for rare conditions. We look forward to the review team clarifying and expanding on how their proposed Innovation Exchanges and Innovation Partnership system would work in practice.

The interim report is still quite preliminary, and the review has a lot of work to do to flesh out their five propositions into some more concrete proposals, particularly in the earlier stages of the innovation pathway. In particular, there is very little engagement with the appraisal and reimbursement processes which we have raised our concerns with in the form of two Patient Charters (which you can see here and here). However, this does form a large part of the second stage of engagement, though reducing reliance on the Quality Adjusted Life Year (QALY) has been ruled out.

How can we make sure patients really are put centre stage?

We would encourage our members to get involved with the next phase of the review to help shape how these high level propositions will be put into practice.

The Review has reopened the engagement platform for the public, with new questions which you can find here. This will close again in January 2016. National Voices will be holding workshops to engage stakeholders – we’ll keep you updated when details of these emerge.

The Accelerated Access Review team are also asking groups to participate in a survey on the “attractiveness of different pricing and reimbursement schemes for the UK”. This closes on Friday 13 November 2015.


If you have any questions or comments about this work please contact our Policy Officer,

Petitions Committee Launch Event - Update

Last week we attended the launch event for the new House of Commons Petitions Committee. The Speaker, John Bercow MP, and the leader of the House of Commons, Chris Grayling MP, Ben Howlett MP and Paul Scully MP were there to launch the committee.

The Committee aims to engage more people in parliament by raising the issues that matter most to them. Petitions with the most public backing on the government’s petition site will be raised within parliament.

Primarily the purpose of this is to raise the profile of issues that are important, and that the public are concerned about, but that are low on the parliamentary and political agenda.

How could the Committee help you?

Sometimes the issues that gain traction out in the rest of the world do not penetrate the walls of Westminster. This disconnect can mean that no matter how successful your awareness raising campaigns are with the public, the people with the power to change things are unaware of the issue.

This is where the Petitions Committee, and the government’s petition site, could be useful to you as part of your campaigns work. We all know that petitions on non-governmental platforms can be really powerful in raising the profile of an issue with the general public. However, with the parliament & governments petitions site your petition, and campaigns, profile could be raised across the public, parliament and government.

The Petitions Committee will be coordinating what happens to petitions from the government site.

  • If a petition gets 10,000 signatures you will receive a response from the government.
  • If a petition gets 100,000 signatures the Petitions Committee will discuss whether should be debated in the House of Commons or form part of a Select Committee enquiry.
How can you get the Committee involved in your campaign?

Set up a petition on the government site:

The Committee will only look at petitions from their own site. This, in part, is to make sure everyone signing the petition is a British Citizen or resident. It also means that signatures from paper petitions or petitions on other sites will not count towards the total number of signatories. To set up a petition you must have 5 signatories, at this point petitions are moderated. Petitions may be rejected at this stage if it is defamatory, regarding something currently going through the courts, or is a duplicate of something already on the site. Petitions can only stay in the site for up to 6 months.

To ensure your petition makes a big impact, you’ll need to have a really clear outcome that you want to achieve. The chair of the Committee recommended that this action should ideally be the title of your petition – for clarity’s sake if nothing else. You’ll need to keep in mind what can and cannot be achieved – for example, they do not have the power to call for a vote of no confidence in a politician.

If work is already happening in the Commons on your particular issue the Committee may decide not to hold a debate but will instead pass it on to another Committee already dealing with the issue, or take another action such as setting up an inquiry.

The most important thing about the Petitions Committee’s work, for the rare and genetic conditions community seems to be their ability to use their own discretion. During the launch event they used the example of rare conditions to illustrate that where an issue is deemed by the Committee as being ‘important’ but has not managed to attract a large number of signatures for some reason – such as there being only a small population of people affected by a specific rare condition – then the Committee will still consider taking action.

The Committee team are keen to help and give advice to people setting up their petitions and can be contacted by email at

Whilst the government/parliament petition site, and the Petitions Committee, won’t be the perfect mechanism to reach all your campaign goals but if you want something to be looked at and debated in the Commons, this might be a good place to start. Especially since you don’t need extensive connections around Westminster, or even an MP to deliver the petition.

We are hopeful that this new Committee will be a useful tool for patient groups to raise their concerns in Parliament!


If you would like more information, or have questions about this work please contact our Policy and Communications Assistant,  

Specialist Nursing in Scotland - we need your views!

Deadline: Friday 8 January 2016

At the recent Cross Party Group (CPG) on Rare Diseases, it was agreed that specialist nurses are extremely valuable to families affected by rare diseases in Scotland. However, it was noted that a significant variation in the provision of specialist nursing services for rare diseases exists.

The CPG has agreed to produce a report considering the value of specialist nursing and identifying the gaps in service provision across Scotland. To do this, we need your help.

If you are interested in participating in this work by sharing your experience of specialist nursing in Scotland, please email our Development Officer in Scotland,

In particular, we want to hear:

  • How many specialist nurses exist for your condition in Scotland? (we also want to hear from you if the answer to this question is 'none')
  • What value do specialist nurses offer patients?
  • Is there a variation across Scotland in specialist nursing provision for your condition? Is there a variation between Scotland and other parts of the UK?
  • How are specialist nurses for your condition funded?

We are also keen to hear from any organisation that would like to take part as a case study for this report.


This article was written by our Development Officer in Scotland, Natalie. Please contact if you have any comments or questions about this work, with the subject line “CPG Specialist Nursing Report”.

The Rare Disease Implementation Plan for Northern Ireland has been launched

We are delighted to announce that last week Simon Hamilton, the Northern Ireland Executive Health Minister, launched “Providing High Quality Care for people affected by Rare Diseases – The Northern Ireland Implementation Plan for Rare Diseases”. The Plan reaffirms Northern Ireland’s commitment to effectively implement the UK Strategy for Rare Diseases and ensure that people living with a rare disease have access to the best evidence-based care and treatment that health and care services, together with charities, research and industry can provide.

The Plan identifies a range of actions to be taken forward in Northern Ireland during the period 2015-2021 in relation to the 51 Commitments in the UK Strategy for Rare Diseases. Northern Ireland follows Wales and Scotland in detailing how they plan to address these commitments.

The actions committed to by the Department of Health, Social Services and Public Safety in Northern Ireland (DHSSPS) include (but are not limited to):

  • A continued commitment to work with their patient partners, including our partners in Northern Ireland the Northern Ireland Rare Disease Partnership (NIRDP) and other patient groups.
  • An agreement to consider adopting the Generic Rare Disease Annex for all service specifications, currently being developed by NHS England, which will outline requirements and considerations that need to be made for rare disease patients (including in diagnostic pathways and specialist centres).
  • Identifying genetic services as a priority for progress and working to develop a service specification for medical and clinical genetics – which should enable all individuals with genetic conditions to access the tests they need to get a diagnosis.
  • Steps to facilitate the creation of a Northern Ireland register of rare diseases – this could help provide important information about the frequency and nature of rare diseases.
  • The announcement of a £3.3million investment in the establishment of a Genomics Medicine Centre in Northern Ireland, working with Genomics England, and participating in the 100,000 Genomes Project.
  • Work to identify areas which would benefit from cross border collaboration with the Republic of Ireland to maximise patient benefit.

To read all of the actions proposed by the DHSSPS please look at the plan.


This article was written by the team at Rare Disease UK. If you have comments or questions about this work please email these to

Cross Party Group on Rare Diseases

On Tuesday 27 October 2015 the Cross Party Group on Rare Diseases met in the Scottish Parliament. 24 patients and patient group representatives attended the event.

Kathryn Fergusson, Head of Medicines at the Scottish Government provided an update on access to medicines for rare diseases in Scotland. Kathryn shared the draft scope of the Scottish Medicines Consortium Review which is due to be announced imminently. Kathryn also explained that the New Medicines Fund had been increased to £90million for this year and that the transition from the Individual Patient Treatment Request System to the Peer Approved Clinical System is currently being piloted in Greater Glasgow and Clyde.

There was also discussion on the issue of specialist nursing in rare diseases. At a previous meeting it was noted that there was significant variation across Scotland, and across condition areas. It was decided that the CPG on Rare Diseases would produce a report that will identify gaps in provision.

The Scottish Government's Named Person Policy was briefly discussed at the meeting. Whilst most in attendance were largely supportive of this policy, it was agreed that rare disease patient groups would benefit from a better understanding of what the policy means in practice and we hope to invite a representative of the Scottish Government to attend the next meeting to provide further information.

Many thanks to all who attended and participated!

The next meeting is expected to take place in late December/ early January and the date will be announced in due course.


This article was written by our Development Officer in Scotland. Please contact if you have any questions.

Research for health – how is funding changing in the UK?

The amount of money being put into health research, and what is funded, is changing in the UK. According to a recent report by the Medical Research Council (MRC) on behalf of the UK Clinical Research Collaboration the amount of funding going into research into health and disease has decreased over the last ten years. This is largely due to a fall in spending by pharmaceutical companies. On the other hand, the contribution from charities and public money (research councils, health departments) has risen faster than inflation. The numbers are impressive: according to the Association of Medical Research Charities  the MRC invested £845million in research in 2014, and the National Institute for Health Research invested more than a billion - £1,014million.

One of the strengths of research funding in the UK is that the various funding bodies between them ensure that a variety of research is supported. For example, science aimed at a fundamental understanding of disease receives a lot of support from research councils, while health departments support a wide range of approaches – with a focus on management of disease, and research into health services. The causes of disease, prevention and early detection receive particular attention from charities. Each of these steps is essential. Such is the ‘ecosystem’ of health research funding: the different bodies bring different skills and focus, and each contributes to the whole pipeline.

The sobering news is that the increase of funding from charities and public money is slowing down, quickly. The government is preparing to publish its latest spending review (when priorities for spending are made, and areas for cuts are identified). To try and protect health research funding from public money, a large group of charities made the argument to the Treasury that “cuts in one area [e.g. from health departments] can’t be compensated for by other funders”.

Turning back to the report and a more positive message. In order for scientific discoveries to be turned into new treatments or interventions to help patients, ‘translational’ research is needed. This is critical where few treatments are available, such as is the case for most rare diseases. The report shows that this kind of research is receiving more funding now than 10 years ago, and that the increase has outstripped inflation.

Finally, some of the finer detail in the report is worth a read. The authors did not look specifically at genetic or rare diseases, but the report covers some detail at how research funding is split among different disease areas such as cancer, infection and congenital disorders. The authors have attempted to assess whether the different disease areas receive a ‘fair’ amount of funding based on the impact the diseases have on people’s lives. This is a very difficult analysis to do, but their conclusions are interesting. Cancer receives the highest proportion of funding, but it has a similarly high impact on life expectancy and disability. Some areas appear to lose out (bearing in mind that this will always be an imperfect analysis). These include diseases affecting the blood or heart (including stroke); mental health; diseases related to the muscles/skeleton; diseases affecting the lungs/breathing; and diseases of the digestive system.

Whether or not the total ‘pot’ of money going into health research is enough, it remains important that all those providing funds ensure their money goes where it is most needed - into addressing the unmet needs of patients and their families.


This article was written by our Senior Research Manager, Amy Hunter. Please contact if you have any questions or comments about this work. 

Get involved in our survey on the use and regulation of new gene editing technologies

We think that those most affected by new research techniques should have a say in their regulation and use. As part of a European Commission funded project, we are asking our patient members to share their view on new gene editing technologies, via an online survey.

Last month a researcher at the Crick Institute in London submitted an application to the Human Fertilisation and Embryology Authority to carry out research on human embryos using a new gene editing technology called CRISPR. This technology is used to edit the DNA code in a cell using a ‘cut and paste’ technique. Scientists can search for a particular stretch of DNA code in a cell and cut it out, sometimes replacing it with a different piece of code. This means scientists can ‘delete’ a section of DNA that is causing a problem within the cell, or replace a malfunctioning gene with a working version.

If the request by the Crick Institute’s researcher is permitted, the embryos used will never be allowed to develop beyond a few cells or be implanted into a woman’s womb. The application comes a few months after a research team in Guangzhou, southern China, published a paper detailing the successful use of the CRISPR technique to edit a gene related to the condition β-thalassaemia, also in non-viable embryos. As with any new technology, as it develops, it is important to debate its use with experts, political decision makers, and with the general public to work out the best way to proceed, and to ensure research is conducted responsibly.

As scientists begin to undertake more research using gene editing technologies, we think it is important that patients have a say in how to use and regulate research and its applications. We are part of a project called NERRI (Neuro-Enhancement: Responsible Research and Innovation), which is looking at the views of the general public across Europe on the use and regulation of neuroenhancement technologies. These are technologies, from drugs to computing to gene editing, that seek to enhance human cognitive abilities. Our survey focuses on gene editing technologies particularly. As part of our contribution, we have developed a survey to canvass the views of our members on gene editing applications.

There are some challenging ethical questions still to answer about gene editing techniques, especially when applied to human DNA. There is potential for gene editing technologies to be used in the future to enhance certain characteristics in healthy people, as well as those with life limiting or life shortening conditions, which some people feel is unethical. Others, including some scientists, feel we should not begin editing human DNA in embryos, even when restricted to research, without a thorough knowledge of the potential long term effects gene editing at the embryo stage could have if the embryo were allowed to grow. We want to ask patients for their views on these kinds of difficult questions.

We will be presenting the results of our survey at a meeting of NERRI project contributors in November, and the outcomes of the project as a whole will be shared with those making key decisions about neuroenhancement technology regulation across Europe. We’ll also update our website with the survey results.

You can help us represent the patient voice by completing our survey. It should take around 20 minutes, and includes a short video about gene editing and CRISPR. We want to put forward as detailed and accurate a picture of patient views on gene editing as we can, to have a real impact on European wide decision making about responsible research.


This article was written by our Public Engagement and Projects Officer, Angela Wipperman. If you have any questions or comments about this work please contact 

Centre for Scottish Public Policy Dinner – update from Natalie.

On Friday 16th October, our Development Officer in Scotland, Natalie, attended a dinner hosted by the Centre for Scottish Policy Research. The Key Note speech was delivered by Cabinet Secretary for Health and Wellbeing, Shona Robison, and the dinner was attended by a number of SNP MPs and MSPs - including Westminster SNP health spokesperson Phillipa Whiteford, Scottish Public Health Minister Maureen Watt and Chair of the CPG on Rare Diseases, Bob Doris. The meeting was also attended by a large number of representatives or third sector organisations.

An excellent discussion on the challenges facing the NHS in Scotland was had and whilst it was acknowledged that Scotland is, in many aspects, a world leader (for example the Scottish Patient Safety Programme), there is a need to get "back to basics" to improve outcomes for patients. Integrated IT systems that communicate across health boards and between primary and secondary care, Scotland's Managed Clinical Networks, the importance of supporting carers and improved links between health and social care were all considered.

The need to continue to encourage innovation in health and to ensure treatments are available and accessible to patients in Scotland at the right time, were also noted as priorities for the Cabinet Secretary.

Genetic Alliance UK will continue to engage with the Scottish Government and the Cabinet Secretary for Health and Wellbeing to ensure issues important to our members are reflected in the Scottish Government's vision for the NHS in Scotland. We are currently planning a number of 'National Conversation' events for early 2016 and look forward to sharing details of how you can get involved soon. If you have any questions about our work in Scotland, please contact Natalie.

New Data Sharing Regulation

From this month (October 2015) health and adult social care professionals have a legal requirement - under the Health and Social Care (Safety and Quality) Act 2015 - to share information with each other when working together to provide care. This means that a unique NHS Number will be used to share information about individual patients. Health professionals will be required to update a patient’s history so that the next professional who comes into contact with the patient has as much information as possible.

Many of the patient groups that we represent have a long journey to diagnosis, and complex, ongoing needs. If professionals do not have the full information about a patient’s history, at best they may have to get patients to retell their story, duplicating work and wasting precious time, and at worst patient safety may be compromised. The effective sharing of information is invaluable in giving a timely, safe and well joined up service as patients pass between professionals and institutions.

This new regulation enshrines existing good practice in law. While passing on information vital to the care of a patient appears commonsense, formalising this means that health care providers must be committed to information sharing when working with others to provide care.

First meeting of the Welsh Rare Disease Implementation Group

The first meeting of the Welsh Rare Disease Implementation Group was held last week. The group is responsible for oversight of the Welsh Implementation Plan for Rare Diseases

Those in attendance discussed the progress being made, by the responsible stakeholders, towards the commitments in the plan to date. We also discussed the priorities for Local Health Boards to focus on and to input into their Integrated Medium Term Plans for next year.

Local Health Boards will be brought together at a workshop in October to ensure that there is a coordinated approach to priority setting within each of their plans. One recommendation within the plan was to hold an annual event where Local Health Boards would be required to report on progress with implementation.

This event will be held on Rare Disease Day 2016 (Monday 29 February 2016) during the afternoon at the All Nations Centre, Cardiff. The event will be open to the public and we hope that members of Genetic Alliance UK will make their local representatives aware of this meeting as it will be a great opportunity for the patient community to hold Local Health Boards in Wales to account.

For more information about this event, and others in Wales, please contact our Development Officer in Wales,

Tuberous Sclerosis Complex (TSC) Patient Day 2015

In collaboration with the Tuberous Sclerosis Association (TSA), Genetic Alliance UK organised to bring together local families to hear about support, information and research opportunities available to them in Wales.

On Saturday 26 September 2015, patients, carers and families heard from expert clinicians and researchers within the field of tuberous sclerosis at the University Hospital of Wales, Cardiff.

We heard from Jenny Jones, the newly appointed Advisor for the Tuberous Sclerosis Association in Wales. Professor Julian Sampson spoke about the TSC clinic that was launched in May and access to this specialist service for patients and families. Professor Sampson informed families about a drug, everolimus for the treatment of tumours in some patients with Tuberous Sclerosis which is now available to patients in Wales that was not previously approved for use.

Genetic Alliance UK will continue to work closely with the TSA to ensure that the network of families and carers supported by the Helping Patients project* continues to grow. Feedback from the event has been extremely positive. One parent commented: "Thank you to everyone involved in a brilliantly informative day".

If you have questions or comments about Genetic Alliance UK’s work in Wales, please contact our Development Officer for Wales, .

*The Helping Patients Project is run by Genetic Alliance UK in Wales to establish and develop responsive and dynamic, condition-specific, peer support networks or patient groups where none previously existed. 

EUPATI update: UK platform meets with National Liaison Team

The UK Platform for the European Patients‘ Academy on Therapeutic Innovation (EUPATI) met again last month, with trainees from Cohort 1 and 2 of the course in attendance. The meeting provided the opportunity for the trainees to meet the EUPATI UK National Liaison Team for the first time.

The key topics of discussion were people`s experiences of the EUPATI training course to date, including lessons to be learned, ideas about content of the next EUPATI Event in November 2015 and development of the network.

EUPATI is a patient-led project aiming to provide education for patients on the medicines development process. This project aims to help patients be more educated and involved in the research and development process of new medicines by offering reliable, objective, comprehensive patient-friendly information and training on the research and development process of medicines.

EUPATI’s national group meetings aim at encouraging networking among trainees and fostering links between trainees, industry partners and health care decision makers.

You can read more about the outcomes of the meeting here.

To keep up to date with EUPATI join the network , follow the project on Twitter @EUPATI_UK or Facebook or contact Laura McCulloch on 0141 404 0233 or by email

Cross Party Group on Rare Diseases - help us increase our MSP membership

Cross-Party Groups (CPG) in the Scottish Parliament provide an opportunity for Members of all parties, outside organisations and members of the public to meet and discuss a shared interest in a particular cause or subject. Each CPG must have at least 5 MSP members, with at least one MSP member from each of the political parties. The Cross Party Group on Rare Diseases has been in existence since 2013 and, with 6 MSP members, has been compliant with membership rules.

In November, Aileen McLeod MSP was announced as Minister for Environment, Climate Change and Land Reform, and as such could not continue as a member of the group. In May 2016 we will also lose two other MSPs Malcolm Chisholm MSP (Co-convener of the CPG) and Nanette Milne MSP as they plan to step down in May’s Holyrood election.

We are grateful for the support each of our departing MSP members have shown over the last two years.

To ensure that the CPG remains compliant in 2016, and that the group continues to be an effective force in Holyrood, we will be undertaking a number of activities in the coming months to raise awareness of the CPG and to invite new members to join. Activities will include one-to-one meetings with interested MSPs, a letter writing campaign and a 'showcase' CPG meeting open to all MSPs.

We would be grateful for the support of our member organisations to encourage new MSPs to join the CPG. Our Development Officer in Scotland, Natalie, is keen to hear from you if you would like to take part in any of these activities, or if you have good relationships with any Members of the Scottish Parliament that may be interested in joining the CPG.

In addition to increasing MSP membership, we are also keen to grow our patient group membership too! If you are interested in attending future meetings or becoming a CPG member, please contact

NSPKU meeting with NHS England, Wednesday 9 September

In NHS England’s most recent round of investment decisions for specialised services (published Thursday 2 July 2015) our member, the NSPKU, was disappointed to find that the drug sapropterin would not be routinely commissioned in children.

Phenylketonuria (PKU) is an inherited disorder where those affected are unable to metabolise the amino acid phenylalanine, and if untreated causes serious intellectual impairment. The existing treatment is a very restrictive low-protein diet which is challenging to maintain and provides a substantial burden to families. Sapropterin has been shown to lower blood phenylalanine concentrations in some PKU patients, which may lead to an increased tolerance for dietary protein, and has already been approved for funding in pregnant women.

Yesterday our Policy Officer, , attended a meeting, organised by the NSPKU, with NHS England to discuss the decision. The charity and a group of parents of those with PKU were given time to air their concerns about the decision, and ask the Deputy Clinical Director of Specialised Services at NHS England for more information on why they had not recommended that sapropterin be commissioned for this patient group.

The representatives of specialised commissioning at NHS England explained that the decision was entirely based on what the clinical decision making panel had considered to be a lack of long term efficacy data, and that the cost of the medicine had played no role in the decision. Those present were told that in the opinion of the clinical panel the evidence that had been submitted did not sufficiently show improvement in nutritional status or cognitive levels, and that the evidence of improvement in quality of life endpoints was also considered not to have been particularly strong.

For the vast majority of rare conditions, generating clinical evidence of a standard that can support commissioning decisions is challenging. The small number of affected individuals, the often heterogeneous nature of the condition and a lack of interest in clinical research for treatments in unlicensed indications, despite there being a good scientific basis for their efficacy, are often limiting factors for generating data on the clinical (and cost effectiveness) of a treatment for a rare disease.

What will happen now?

Representatives of the NSPKU made reference to a US study which appears not to have formed part of the clinical panel's decision, and the NHS England representatives agreed to look at this to see if it warranted them reopening their decision. They also agreed that when the interim results of the Kognito study are published early next year, this may lead to a re-evaluation. There will also be conversations with the Chair of the metabolic disease Clinical Reference Group (CRG) to see whether sapropterin is suitable to be considered for commissioning through evaluation.

The process for the NSPKU is ongoing, but we hope that by uniting patient groups for rare and genetic conditions, we can help to ensure that NHS England’s specialised services commissioning policy is fair to the particular needs of our community. 

Patients without a diagnosis are often overlooked but we want to give them a voice in parliament

Last weekend, we attended an event run by SWAN UK (an initiative of Genetic Alliance UK) at Thames Valley Adventure Playground (TVAP) for SWAN UK families to get together in an environment suitable to their children’s needs.

Members of SWAN UK are parents of disabled children who are thought to have a genetic syndrome or condition that doctors have so far been unable to identify. SWAN (syndrome without a name) is not a condition, it is not a diagnosis, and it does not refer to one specific syndrome or condition. In fact, the reason that many children remain undiagnosed is because it is highly likely that they have a very rare syndrome or condition.

The work that SWAN UK does, and the support they provide, is really important to families with undiagnosed children. The SWAN UK community has told us that having an undiagnosed child can be extremely isolating. Questions from other parents can feel impossible to answer when you don’t have a diagnosis to give them and planning for the future isn’t easy when you don’t know what your child’s condition will look like in a few years time.

For SWAN UK families, who do not feel like they fit into the same boxes as other families with diagnosed conditions, the SWAN UK Facebook group is a lifeline. Finding other parents in similar situations and sharing experiences can bring immense benefit to families. Events like the one at TVAP are an extension of this.

TVAP is a playground specially designed for children and adults with different types of special needs. The site has indoor and outdoor activities, including a sensory garden, castle, crazy golf, an indoor sensory room, music and soft play areas. On the day SWAN UK also arranged face painting, balloon animal making, and Tomcat Trikes.

We took the opportunity on the day to talk to the families about some of the policy and public affairs work that Genetic Alliance UK and Rare Disease UK are currently doing. It was interesting to talk about the struggles & challenges SWAN UK families face, how they are both similar, and different, to those faced by individuals with a rare and/or genetic condition. In particular, our discussions focused around the All Party Parliamentary Group (APPG) that we are setting up in parliament. Many of the families were keen to work with us on this and wrote letters to their MPs there and then!

An APPG is a group of MPs and Peers from different parties who work together to highlight issues on a topic that the group represents. Some APPGs have been extremely effective in raising the profile of issues and making sure that MPs and peers are well informed about the perspective of affected communities.

The voice of those without a diagnosis is often forgotten and their needs overlooked, a fact that Genetic Alliance UK highlighted recently in a blog for SWAN UK. We hope that this APPG will mean that the voices of SWAN UK families (in addition to those with rare and/or genetic conditions) are heard within Westminster.

Providing a voice for the SWAN UK community in parliament should open doors, enabling us to push for improved diagnosis which in turn will hopefully unlock access to effective medical care and treatment. This should benefit all families and individuals with rare, genetic and undiagnosed conditions.

Helping the government understand what it can do to help improve the lives of families and patients is so important – and it was wonderful to see so many SWAN UK families take the time to ask us questions about the group and to write to their MPs asking them to get involved.

Find out more about the APPG here. 

Genetic Alliance UK celebrate 200 statements of support for conditions being considered for PGD

Preimplantation genetic diagnosis (PGD) is an important tool for families affected by genetic conditions. Genetic Alliance UK is proud of the work that we have done in this area, and our continued contributions to the Human Fertilisation and Embryology Association’s (HFEA) licensing process for the technology. We are excited to announce that we have now reached 200 submissions to the HFEA in support of the licensing of PGD for specific conditions.

What is PGD?

PGD gives couples at risk from serious genetic conditions an alternative option when considering their reproductive choices. Previously, couples who wished to avoid the birth of a child affected by a genetic condition had to choose between abstaining from having children, trusting to chance that their child would be healthy, or antenatal testing and termination when an affected foetus is detected. For many couples these options were unacceptable.

PGD is a technique that enables couples with a particular inherited condition in their family to avoid passing it on to their children. The process involves the use of assisted reproductive technology (ART). Eggs are obtained and fertilised through in vitro fertilisation (IVF). The genetic material (DNA or chromosomes) within one cell of the embryo is tested for the genetic or chromosomal abnormality before being implanted into the woman. If successful, the procedure will result in pregnancy and the child should not be affected by the condition for which it was tested.

How does Genetic Alliance UK help families who want to use PGD?

The HFEA considers individual genetic conditions for PGD licensing on a case by case basis. Since 2009 we have been been submitting supporting statements, at the request of the HFEA, to bring patient voice to the licensing process.

Applications for licensing are generally submitted when a couple are actively seeking to receive PGD to avoid the conception of a child with a genetic condition. Often one partner suffers from the condition themselves, has a parent who has suffered from the condition, or the couple already have a child with the condition.

The HFEA requires that a couple be at risk of having a child with a “serious” medical condition for it to be licensed. The judgement about the seriousness of the condition is usually based on the age of onset, symptoms, treatability, and the quality of life associated with the condition. It is essential to us that the patient’s perspective is considered as part of this judgement - as they are the ones that really understand how seriously the condition has already impacted on their family.

Our submissions sit alongside applications to the HFEA and statements from peer reviewers, to provide some idea of the familial experience that leads a couple to seek PGD.

In our submissions we discuss the implications of inheritance. Dominant conditions can cast a shadow across generations and recessive conditions can come to a family as a devastating shock out of the blue. We highlight the experience of patients with genetic conditions - that many of these conditions do not have any treatment, let alone a cure, and where treatments exist, they are rarely without risk or fully effective. We make clear the impact on a whole family, including siblings, parents and carers, not just on individuals.

At the heart of our work on PGD is the knowledge that a couple’s decision to choose PGD is being made from a place of informed experience. They will have experienced the condition, either by suffering themselves, or watching a loved one battle the illness, and therefore are the best experts on how serious a condition is, and how it affects an individual's life.

Where we have submitted a statement to be considered alongside an application for a single gene disorder, the licensing committee has not yet refused an application. This shows how seriously the committee takes patient voice, and how powerful the impact of its inclusion can be.

Where is technology and policy in the area of assisted reproduction heading?

Currently, we are contributing to the development of the regulation of mitochondrial replacement therapy, and hope that with our input, the regulation process will include as much patient and public involvement as possible.

The legal basis for the decision making criteria for mitochondrial replacement is similar to that of PGD. We believe that the regulation of mitochondrial replacement should be in line with that of PGD. On a practical level this means that where the “seriousness” of a condition has already been tested during the process of regulation for PGD, we hope that it will not have to be re-evaluated for mitochondrial donation. 

All Party Parliamentary Group on rare, genetic and undiagnosed conditions

Genetic Alliance UK, together with our initiatives SWAN UK and Rare Disease UK are planning to set up an APPG for rare, genetic and undiagnosed conditions.

To ensure the group is successful, we need as many MPs and Peer’s to sign up, and be active members, as possible.

We’re asking you and your members to get involved by contacting your respective MPs. As their local constituents, you have the most influence over your respective parliamentarians. The more MPs that are engaged in the work of the group, the more opportunity we have to raise awareness, influence change, and work together to improve the lives of individuals affected by rare, genetic and undiagnosed conditions.

It will only take just a few minutes to adapt the template letter, which you can adapt to reflect your personal experience before sending to your MP. You can find out who your MP is and how to contact them here.

Don’t forget to let us know if your MP gets back to you. To do this you can contact our Public Affairs Assistant, .

What is an APPG?

All Party Parliamentary Groups (APPGs) are informal, cross-party, interest groups of MPs and Peers interested in a particular issue.

APPGs do not have any power to make laws and are not funded by Parliament. There is a great number of APPGs, covering many and diverse fields such as health, education, transport, defence, finance, the media, and sports.

What we hope to gain from having an APPG on rare, genetic and undiagnosed conditions
  • Increase awareness of rare, genetic and undiagnosed conditions in parliament
  • Help to ensure that patients and families affected by these conditions have access to appropriate care and support
  • Host events for Rare Disease Day and launch relevant reports & research
  • Connect MPs (and Lords) with the issues that matter to their constituents

If you have any other questions or comments about this work please contact our Public Affairs Assistant,

Update from Louise on this week’s Scottish Medicines Consortium Committee meeting

I recently joined Genetic Alliance UK as the new Policy Officer. One of the first pieces of work I will be leading on is a Patient Charter on access to new medicines in Scotland. This will be a similar piece of work to our previous patient charters on NICE’s evaluation of highly specialised technologies and NHS England’s commissioning of medicines for rare diseases

To get this work started, our Director of Policy, Nick Meade, and I travelled north to Glasgow, to attend the August meeting of the Scottish Medicines Consortium (SMC) Committee. The SMC is the body that appraises all new medicines before they can be used in the NHS in Scotland, assessing their clinical and cost effectiveness. So far in 2015 the SMC has approved some 40 medicines for use in Scotland, including medicines for some rare conditions and rare cancers.

The SMC Committee holds its monthly meeting entirely in public, appraising six or seven medicines each session. The committee, made up of representatives from the Area Drug and Therapeutics Committees from each of Scotland’s 14 geographical health boards and representatives of the pharmaceutical industry body ABPI, examines draft advice from the New Drugs Committee. They consider the medicine‘s efficacy and safety compared with existing treatments, along with health economic data such as the incremental cost-effectiveness ratio and likely budget impact. The committee also hears from Patient Interest Groups as well as a Patient and Clinical Engagement Group in cases of orphan or end of life medicines, who have the opportunity to explain how people are affected by the condition and the impact of the new medicine on patients and their carers.

The committee members have a chance to discuss the evidence presented to them, and ask clarifying questions of representatives of the company submitting the medicine, before taking a vote. The vote is typically the only part of the committee meeting conducted in private, unless there has been commercially confidential information submitted by the company. The vote is counted after the public part of the meeting is concluded, and made public about a month later.

Among the medicines being appraised in August was the controversial medicine for mucopolysaccaridosis, type IV A, elosulfase alfa, which provoked spirited discussion among the committee.

The SMC committee meeting was a fascinating insight into how Scotland decides whether to make a medicine available in the NHS, and very different from the processes followed in England.

If you want to find out more about this work you can

All the things we still don’t know about NHS England’s prioritisation framework...

NHS England’s prioritisation framework for the commissioning of specialised services sets out the principles to underpin decision-making, the priority order for use of funds, and the process for developing clinical policies for proposed new investments. We have welcomed the intentions outlined in the “general principles” section of the document, we do however, feel that what follows is unclear and sometimes contradictory. This should have been dealt with in NHS England’s response to their consultation, but has not.

Much of what we said in our submission to the consultation focussed on the definition of key terms, most of which have not been addressed. The lack of precision within their proposals leaves much of the framework unclear. We highlighted the need for definition of the terms: “patient group”, “relevant guidance”, “adequate and clinical guidance”, “reasonable cost to the public” and “measurable benefit”. Without proper definition of the terminology within the document we cannot be sure how the prioritisation process will impact upon our community, or whether the decisions will be consistent.

NHS England’s response lacks clarity around several aspects of the process including; how separate pathways at NHS England integrate with each other, at what point in the process the principle of “affordability” will be applied, what form the new clinical review panel will take, how NHS England plans to better support the CRGs and how patient and public voice can be better integrated into the process.

Questions around the fast tracking of interventions where benefits are obvious and the design of an appeals process have also gone unanswered.

The analysis to the consultation responses completed by The University of Essex details the most important points from the 278 responses that NHS England received. The six pages that NHS England produced are inadequate.

Ironically Essex University’s analysis, published at the same time as NHS England’s response to the consultation, pointed to stakeholder feelings that patient and public voice was not given enough weight.

“There was a common view that the voices of the patients and public are not given sufficient weight, for example: The patient voice needs to be taken more seriously - it currently feels that although patients are included in many stages of the process their opinions carry little weight in the final decisions. (Patient member of a Clinical Reference Group)”

Genetic Alliance UK’s Director of Policy, is a member of NHS England’s Patient and Public Voice Assurance Group (PPVAG). The group have been asked to assure the consultation process for NHS England’s new prioritisation framework. The group agrees with our position that the response from NHS England has been inadequate and will not be providing assurance for the consultation until more work is done to comprehensively respond to stakeholders comments.

It has been really disappointing to see that, regardless of all the excellent engagement work that the NHS England team conducted during the consultation process, their final document makes very little of the information that they collected. This framework is extremely important to our community. The failings of the previous process have been heartbreaking for patients and patient organisations and we should be determined not to let prioritisation decisions rest on a flawed process once again.

The next step for NHS England should be to attempt to fully utilise the information provided to them during consultation, and to better incorporate the ideas of the people who are affected by decisions at the end of this process into a new draft, in order to get the approval of the PPVAG. We will keep you upto date with progress in this area.

You can read the letter from the PPVAG here. 

Our thoughts on the Department of Health’s Triennial Review of NICE

We are glad to see that the Department of Health (DH) has published its triennial review of the National Institute of Health and Care Excellence (NICE). Whilst the document does describes some of the areas where NICE must improve for the benefit of patients, we feel that there are areas, important to our membership, that have not been addressed.

We welcome the acknowledgement that the overlap of NICE activities with other bodies, such as parallel cost effectiveness evaluations with NHS England, this undermines NICE’s role and leads to increased cost, delays and inconsistencies. We look forward to further discussion of rationalisation of this area of NICE’s work in the wider context of all relevant bodies working in this arena in England.

In a context where resources are scarce and where there are insufficient resources to appraise all medicines that might require a cost effectiveness assessment, it is paramount that unnecessary system overlaps be eliminated and for the system to be rationalised. Improved communication between NICE and NHS England is necessary so that the most appropriate access route is selected, and so that there is no duplication in future. This is an integral point, affecting patients, which the DH has not fully addressed in its response to the review. As you can see here, NHS England recently appraised two treatments in parallel with NICE, terminating the process with a decision to await NICE’s decision. This whole process caused a great deal of anguish and misplaced expectation within the patient community.

Whilst the issue of system overlap was addressed to some extent, other issues have not been addressed. For example, in our submission to the DH for this review we outline issues around Pharmaceutical Price Regulation Scheme (PPRS) and Value Based Assessment (VBA). There is no clear message regarding whether PPRS should be taken into account as part of cost-effectiveness calculations. VBA represents a missed opportunity for NICE to consider new ways of assessing ‘value’. Neither of these issues were addressed in the triennial review.

Issues around the Highly Specialised Technologies (HST) programme are also not addressed within the document. NICE committed to evaluate its HST process in 2014, yet there has been no progress made with this, and it appears that we will not see any for some time. Whilst NICE drags its heels over this, the capacity and eligibility criteria need updating. There needs to be flexibility between HST, Single Technology Appraisals (STAs) and Multiple Technology Appraisals (MTAs) to ensure that all drugs are appraised using the most appropriate methodology. The criteria “clinically distinct” also needs updating to reflect current thinking in this area. The criteria rule out stratified medicines designed to treat patients with rare but molecularly defined forms of common conditions. The criteria need to recognise patient subgroups defined by symptoms, genetics or biomarkers.

NICE only look at three medicines every year under the HST programme and there appears to be little coordination between NICE and NHS England in determining which three medicines should be selected for a NICE appraisal and how those not selected will be prioritised for evaluation by NHS England. There needs to be transparency in this topic selection process, and there needs to be a coordinated approach so that treatments do not fall through the cracks leaving the Independent Funding Request (IFR) route and the Clinically Critically Urgent route as their only options.

Patient and public involvement, an area discussed within the review, has been addressed inadequately. While the review acknowledges some of the bad feedback that NICE has received, the recommendations do not reflect this to an appropriate degree, instead suggesting that NICE should “continue to work with patient groups” in the same way that they have been doing up to this point.

Looking forward, the Accelerated Access Review should take up some of the key issues raised by the triennial review. But there needs to be a more detailed approach to the next steps for NICE, with more specificity about the issues raised. Our response to the Accelerated Access Review will raise the points discussed here.

The safeguarding of health data

On Tuesday 21 July 2015, The Guardian published an article about the Government’s plans for patient data. The article detailed what they have called a “data grab” by the government - who, it is claimed, have been looking to be allowed access to patient data from IT companies to inform their policy on a seven day NHS.

In response to this article, Genetic Alliance UK has co-signed a letter to The Guardian, along with Arthritis Research UK, the Association of Medical Research Charities, the British Heart Foundation and the Wellcome Trust, on the issue of patient data in research.

Our position is clear: data has an important and vital role to play in the improvement of healthcare delivery, service design and medical research within the NHS. However, the system must use a clear framework to safeguard data, only then will patients, the public and healthcare professionals have trust in the system.

You can read the full Guardian article here, and our letter here.

Genetic Alliance UK's annual conference 2015

On Tuesday 14 July 2015, 94 members and other stakeholders joined us at our annual conference. This year we celebrated our 25th birthday. It was a great chance to look back at the achievements in genetic medicine and healthcare, as well as our achievements as a membership organisation, over the last 25 years. It was also the perfect opportunity to begin to think about what’s next, not just for Genetic Alliance UK, but for healthcare and genomic medicine too.

We heard from our Director, Alastair Kent OBE, Karen Temple and the Department of Health about developments in genomic medicine and policy over the last 25 years.We also got the chance to celebrate three of our members, hearing from the AKU Society, Alstrom Syndrome UK and Niemann-Pick UK on the brilliant work they do within their communities.

We launched a survey for members to complete, to find out more about what you are up to and what you’d like us to think about in the future. 

You can take a look at our annual report here, and the storify from the event here. 

Over the coming year we will continue to celebrate this milestone.

Our thoughts on NHS England’s new prioritisation framework

Many of our members will be unhappy with the recent NHS prioritisation recommendations. To make sure that the system doesn’t keep producing decisions that are unsatisfactory for patients, the new prioritisation framework for 2015/16 needs to work in the interest of patients. With this aim in mind, Genetic Alliance UK responded to the NHS England consultation “Investing in specialised services” in April 2015. The consultation looked at NHS England’s set of ‘principles’ on which future decision making about the investment in specialised services will be made. NHS England has now released their response to the consultation.

NHS England’s response suggests that they will not be making any major changes to the framework as a result of the consultation. Whilst we welcome some aspects of the principles and processes proposed, such as greater stakeholder involvement in the development of policy proposals - the framework they have outlined may not go far enough in achieving their organisational promises to be “open and transparent”, to “prioritise patients in every decision” and “listen and learn”.

The response from NHS England lacks the level of detail that patients deserve in relation to such an important consultation. Recent events have highlighted just how important it is to patients to get this framework right. In response to the ‘principles’ section, our response (which consisted of over 2000 words) was met with two sentences, barely scratching the surface of the areas that need deep thought from NHS England.

There are overarching problem areas that need to be addressed within NHS England’s prioritisation, and many of these have not been responded to. For example, in our response to the consultation, we have highlighted that staff time is a limiting factor for the NPOC Boards in deciding what gets put on to the annual work plan. This issue will worsen over time as there is already a backlog, and this will vastly limit NHS England’s ability to appraise the majority of specialised treatments and interventions. This highly important issue has not been recognised in NHS England’s response to the consultation.

We are extremely disappointed that our concerns over the involvement of ‘affordability’ of interventions has not been addressed. The consideration of affordability for treatments in earlier stages of the appraisal process, may disqualify these new and innovative interventions from being fully evaluated due to them being deemed too expensive before their value can be assessed.

Genetic Alliance UK will be doing more work around this in the coming weeks. You can find our consultation response here, and the response to consultation from NHS England here.

If you would like more information or if you would like to talk to us about this topic, please contact our policy and communications assistant, .

TAIN update: exploring the impact of Adrenal Insufficiency and Congenital Adrenal Hyperplasia (CAH) - survey now live!

Genetic Alliance UK is undertaking research to help understand the impact of parenting children affected by Adrenal Insufficiency including CAH. This work is being undertaken as part of the TAIN (Treatment of Adrenal Insufficiency in Neonates) project, which has been funded by the European Commission and aims to develop a new neonatal treatment. You can find out more about the TAIN project here. You can find out more about Genetic Alliance UK’s involvement in the project here.

Genetic Alliance UK is now undertaking research to explore the impact of adrenal insufficiency on parents of affected children, and to gather health economic data.

The survey is now online and should take no more than 40 minutes to complete. The survey is available in English, German or Dutch. To find out more or to complete the survey, please click on the links below.

Survey in English

Survey in German

Survey in Dutch

If you have questions, or want to find out more about this project please contact our Research Associate, , for more information.


NHS England’s commissioning decisions published

Today, NHS England’s Clinical Priorities Advisory Group (CPAG) has released its prioritisation recommendations for specialist services commissioning.

CPAG made recommendations on 18 cost neutral or cost saving clinical commissioning policies, 2 in-year service developments, 24 proposed clinical commissioning policies for new investment in 2015/16 and 2 proposed service specifications that do not fall within the process for prioritisation in 2015/16 and which were considered by CPAG for the purpose of assurance.

While it is a positive step in that NHS England has finally started to prioritise the commissioning policies that have been developed over the past two and a half years, within the recommendations there isn’t much good news for the genetic and rare disease community. The recommendations highlight some of the problems within the funding process for treatments in England.

Genetic Alliance UK is particularly frustrated about the recommendations made on treatments for mucopolysacchardosis IV type A and Duchenne muscular dystrophy. Both these treatments have not been recommended for routine commissioning, as CPAG decided to wait for a decision from NICE’s Highly Specialised Technologies (HST) evaluation programme. They have been appraised by NHS England and NICE in parallel, wasting time and resources, and building expectation within the patient community that has now been shown to be wasted. We have written in detail about this lack of rationalisation in our patient charter on NHS England's evaluation process, you can find that here.

We shouldn’t forget that every day these decisions are postponed, patients are going without treatment. There are some positive recommendations for our members in that the risk threshold for BRCA (breast and ovarian cancer susceptibility genes) testing has been lowered, allowing more access, and the UK Genetic Testing Network recommendations for the commissioning of new genetic tests have been approved.

This is the last time that decisions will be made using this process, as NHS England will be evolving their prioritisation process as per the result of consultation last Friday.


Shared decision making and the rare disease community

On Friday 19 June, Genetic Alliance UK met with Dr Aoife Molloy, Clinical Fellow at the National Institute for Health and Care Excellence (NICE), to discuss the work that she’s doing on shared decision making (SDM). We’re hoping to be able to do some work around SDM because of its importance to the rare disease community.

SDM is a collaborative process that allows patient and their doctors to make healthcare decisions together. SDM is a two way process: medical decisions are made using both the relevant scientific evidence and the patient’s values and preferences. The team at NICE have seen that SDM has benefits for patient’s physical, psychological and psychosocial health. Patients feel much more positive about the decisions that have been made. Having the space to make an informed choice about their own healthcare also means that patients are more likely to adhere to the treatment agreed on.

This process isn’t new. Many people are already making shared decisions with their clinicians every day – but NICE aims to embed this into all their clinical guidelines. Communication and health literacy are key issues in putting the ideas of SDM into practice. NICE are currently looking at developing ‘decision aids’ to help doctors to include patients in the decision making process, as well as giving patients the tools to empower themselves. The use of decision aids has been linked to reduced anxiety, improved satisfaction and improved knowledge. They allow people to feel as if they have made an informed choice.

We think this idea is really important for the genetic and rare disease community to embrace. For rare disease patients, the ability to say ‘this is what matters to me’ is really important, and helps them get care and support tailored to their specific needs.

The incorporation of SDM into NICE guidelines could be a great starting point in what Dr Molloy regards as a revolution in the way patients engage with their healthcare. Maybe in the future your doctor will be asking “what matters to you?” rather than “what is wrong with you?."

If you have any thoughts or comments on the idea of SDM, please feel free to , we’d love to hear your ideas!


Update: EU Data Protection Regulation

Forty-two months on, progress towards a new approach to data regulation in Europe continues... Here's an update following the Council of Ministers' agreement on a final position.

In January 2012, the European Commission adopted its proposal for a General Data Protection Regulation (5853/12). The new Regulation is intended to replace the previous European law on data protection (Directive 95/46/EC). The regulation aims to protect individuals with regard to the processing of personal data and free movement of such data. The European Parliament adopted its first reading position on the proposals for a Data Protection Regulation on 12 March 2014. The Council of Ministers agreed their General Approach on 15 June 2015. The regulation now goes into trialogue negotiations, which began this month in an atmosphere of optimism, between the three European institutions to agree on a compromise.

The first draft of the Regulation set out a framework in which individual’s privacy could be protected, requiring specific and explicit consent for the use and storage of personal data. The Commission recognised that specific consent is not always possible in research and included exemptions, when subject to safeguards, for research (Article 83). We think these exemptions are necessary to ensure valuable medical research remains possible.

The European Parliament’s amendments significantly reduced these exemptions, prohibiting, or making impractical, the use and storage of personal data without specific consent (Article 81 and 83). The European Parliament's position could stop or severely hinder some approaches to medical research. The Parliament version has been described by a colleague from the Medical Research Council as making medical research "at worst illegal, at best unworkable". If the Parliament’s position for stricter rules on consent for research is implemented, health research would be harmed. Obtaining specific consent when personal data is used would limit researcher’s ability to use such data. Safeguards already exist to keep checks on how personal data is used in research, in the form of ethics committees. If the use of personal data is prohibited, where gaining specific consent is not practicable, medical research may be slowed down in its endeavours to make the European population healthier.

On 15 June 2015, the Justice and Home Affairs Council agreed its General Approach on the entire Data Protection Regulation. The Council’s position keeps the exemptions for research from some of the data subject rights, with increased safeguards in place. This position is closer to the Commission's version on research.

We are now urging the Council of Ministers, European Parliament and European Commission to find a compromise in trialogue negotiations that reflects their shared commitment to research. You can read the joint position we have signed up to, published by the Wellcome Trust here.


The Penrose Enquiry

On the 25th of March 2015, the final report of the Penrose Inquiry was published. The Penrose Inquiry, a Scottish Public Inquiry into Hepatitis C/HIV acquired infection from NHS treatment in Scotland with blood and blood products was set up by Scottish Ministers under the Inquiries Act 2005.

At the recent Cross Party Group on Rare Diseases meeting earlier this month, Dan Farthing Sykes (Haemophilia Scotland) provided a report on the Penrose Inquiry. Dan explained that in the late 1970’s and early 1980’s, the introduction of new Factor VIII and Factor IX Concentrates had doubled the life expectancy for severe Haemophilia to over 55 years. However, these products were made using manufacturing pools containing blood from thousands of blood donors and if one donor had a blood borne virus, such as HIV or Hepatitis C, the batch of products would become infective. This led to a significant number of Haemophillia patients being infected with HIV or Hepatitis C. Dan reported the number of infections and deaths and gave some idea of the impact of the disaster and outlined how the need to campaign for decades had been an extra burden on the community.

The Penrose Inquiry took more than six years to complete and an estimated cost of £12 million. The Inquiry involved 89 days of oral evidence, however many people felt disappointed that they had not been given the opportunity to give evidence. Dan highlighted just some of the powerful evidence that was confirmed by the Report. 

Dan explained that for many of those affected, the report was considered a whitewash. The lack of a strong condemnation of the disaster, that individuals were not held to account, and that no recommendations about learning lessons in relation to bleeding disorders were made, have all contributed to the sense of betrayal of those affected.

Dan highlighted what actions Haemophilia Scotland, and others, have called for and what had happened so far in response. In particular, · The Scottish Government apology, accepting moral responsibility, has been important to many people. · A Financial Support Review Group is being established to advise the Scottish Government on how financial support should be provided. It is has been agreed that getting people the financial support they need it the top priority.

  • The Scottish Government are committed to conducting to pilot projects to examine the best ways of providing psychosocial support in Scotland with a view to providing a national service.
  • That a Short Life Working Group is being established to implement the Penrose Report Recommendation on look-back.
  • That a new national Haemophilia committee, The National Managed Clinical Network for Inherited Bleeding Disorders, is being established and will give a stronger patient voice in decisions about service delivery.
  • That discussions have begun about a stronger patient voice in decisions about purchasing clotting factor products.
  • That the Health (Tobacco, Nicotine etc. and Care) (Scotland) Bill makes provision to introduce a Duty of Candour which, if well implemented, could help improve transparency.
  • Shona Robison has made a statement in relation to access to the new Direct Acting Antivirals for Hepatitis C , saying that “it is very important that those who have been affected through the infected blood and blood products are given an opportunity to have those treatments.”

You can read more about the contaminated blood campaign here. Should you wish to find out more about the Penrose Inquiry, or the work of Haemophilia Scotland,  


#RDdebate – Twitter engagement with Westminster Hall debate on access to drugs for ultra-rare diseases.

On Monday 15 June, to raise awareness of the debate on access to drugs for ultra-rare diseases, Genetic Alliance UK co-hosted a digital twitter debate with Greg Mulholland MP and the House of Commons digital engagement team. Members of the public had the opportunity to feed their experiences into the debate happening the next day. On Tuesday 16 June, members of the public were permitted to use hand-held electronic devices in the Public Gallery at Westminster Hall, for the first time, during the debate “Access to drugs for rare diseases”.

Patients and their families told us about the impact that access to the right ultra-rare disease drugs have had on their lives. They also described the devastating effects of being denied drugs that they believe could help them.

Patients shared how their lives had been transformed when they had access to the medicines they needed. We heard stories from parents, of children now able to take part in the same activities as their peers as a result of their medication. For example, one parent told us about her daughter who could take part in her school sports day.

One patient told us about his fight to get the right medication, and his excitement in finally being able to get back to work:

“I’ve just got a job with a small company; they’ve given me time off for treatment. I’ve stabilised. It’s taken me 4 years, I can finally start putting my degree to use”.

Many stories, however, were about not having access to the right drugs, and showed the impact that this can have, not just on patients but on their families as well. Patients gave testimonials about the barriers that they had encountered on the way, such as clinicians not understanding the nature of the conditions, governance and bureaucracy, and the inequity between England, Scotland, Wales and Northern Ireland. Some highlighted that they struggle to access even the most basic therapies such as hydrotherapy – even when recommended by specialists.

“Many of us living with a Rare Disease could have better quality of life if top drugs and therapies were made available.”

Calls for a “robust and fair process for all those affected by ultra-rare diseases” showed that the issues faced by those who cannot access the medicines they need right now, are felt across the whole community. Many look to the future, knowing that developments in the treatment of their condition will come soon, and that access may be a problem if the system is not sorted. Others expressed concerns that one day they may no longer be able to access the medicines they need to effectively treat their condition.

The twitter debate’s hashtag, #RDdebate, reached 1.15 million people online – showing substantial engagement from patient organisations and patients themselves. The twitter debate was described as “historic” by Greg Mulholland MP, during the Westminster Hall debate on Tuesday. One really great outcome from the twitter debate is that so many MPs engaged in the debate on Tuesday. Over 15 MPs contributed to the debate and many of these used the testimonials that patients posted during our twitter debate, to inform their views and to direct questions to Life Sciences Minister, George Freeman MP.

You can view our Storify summary of the twitter debate here.


Update from the Cross Party Group on Rare Diseases

Cross Party Group on Rare Diseases The Cross Party Group on Rare Diseases met on June 10th at the Scottish Parliament. Chaired by Bob Doris MSP, the meeting focused on two key topics in Scotland – Access to Medicines and Specialist Nursing.

We are grateful to Kathryn Fergusson, Head of Medicines at the Scottish Government, for providing a detailed update on the recent announcement of a doubling of funds available for new medicines through the New Medicines Fund. The £80million New Medicines Fund is a reinvestment of money from the Pharmaceutical Price Regulation Scheme and is used to fund medicines for orphan, ultra orphan and end of life medicines and represents the commitment of the Scottish Government to ensure that medicines are available to rare disease patients.

Yvonne Hughes, representing the Cystic Fibrosis Trust, provided an update on the new Scottish Medicines Consortium Patient Involvement Network, which has been developed for a greater patient voice in the development of SMC processes. Yvonne was nominated by Genetic Alliance UK to represent the voice of the rare disease community and we will be using our newsletter to keep you informed of progress and opportunities to get involved in the work of the SMC.

The issue of Specialist Nursing for rare diseases was raised in light of the recent announcement by the First Minister of £2.5million of extra funding for specialist nursing. A review of specialist nursing by the Scottish Government had been anticipated and it had been hoped that the third sector would have an opportunity to influence the Scottish Government in how these valuable funds should be spent. However, the Scottish Government have advised that funds have been allocated to Scotland’s 14 territorial Health Boards and that each Board will make a decision as to how this money should be allocated.

Patient groups in attendance found this to be a disappointing decision, there was consensus that decisions of this nature should be looked at on a national level to prevent a postcode lottery of service provision. There were also concerns raised over the difficulties for patient groups to engage with 14 different health boards, whether patient groups would have to bid against each other and whether patient groups with the ‘greatest numbers’ and ‘loudest voice’ would be more likely to receive funding. It was agreed that the Cross Party Group would take action on this matter and letters to the Cabinet Secretary for Health and Wellbeing, the Chief Nursing Officer and Scotland’s 14 territorial Health boards will be sent on behalf of the Group. We are grateful to representatives of The Sickle Cell and Thallassemia Support Group and to Marie McGill from the Single Gene Complex Needs Service for their presentations and insight into the value of specialist nursing for rare disease patients.

At the meeting we also heard from Dan Farthing-Sykes, representing Haemophillia Scotland, who gave an excellent presentation on the Penrose Inquiry, the Scottish Public Inquiry into Hepatitis C/HIV acquired infection from NHS treatment in Scotland with blood and blood products. Thank you to Dan for sharing the patient perspective on the Penrose Inquiry.

Finally, the Cross Party Group also had it’s AGM at this meeting. Bob Doris and Malcolm Chisholm were returned as co-conveners and Natalie Frankish was returned as both Secretariat and Treasurer.


Success of first Behçet’s in a Day event in Wales!

Behçet’s in a Day is an educational event and the first of its kind in Wales to bring together patients and health professionals to find out more about this rare condition, it's management and treatment options.

Genetic Alliance UK supported one of the Welsh trustee's of the Behçet’s Syndrome Society to organise the event which took place earlier this month and attracted over 90 delegates including secondary care health professionals, commissioners and patients and families. Specialists from the 3 Centres of Excellence in England presented at the event on areas including treatment of Behçet’s, oral care in Behçet’s and Behçet’s and the Eye. It also provided an opportunity to highlight issues that patients with Behçet’s have been experiencing in trying to gain access to a specialist centre in England.

Rachael Humphreys, who is patient and trustee of the Behçet’s Syndrome Society spoke at the event and gave her perspective of living with the condition. She will be driving forward her campaign to ensure that patients in Wales receive equitable access to the Centres of Excellence in England and that the Welsh Government continue to make progress with implementing the commitments within the Welsh Implementation Plan for Rare Diseases.

Please contact, , our Development Officer in Wales for more information about support in organising events to raise awareness of your condition locally.


What do patients with rare genetic conditions think about the use of whole genome sequencing in the NHS? Research findings for the 100,000 Genomes Project

Last year Genomics England commissioned Genetic Alliance UK to seek the views of patients and families on some of the issues raised by the 100,000 Genomes Project including:

  • What findings should be fed back to participants of the 100,000 Genomes Project?
  • How should personal information about participants of the 100,000 Genomes Project be shared with others?
  • How should participants of the 100,000 Genomes Project be contacted about their involvement in future research studies?

An online survey and follow-up telephone interviews captured the views of over 230 patients and family members. The findings were used to help guide the 100,000 Genomes Project and the development of information for those that will take part.

The 100,000 Genomes Project now has ethical approval from the Health Research Authority Ethics Committee to offer patients in the NHS further information about their genomic results. The final project protocol and participant information can be accessed via the Genomics England website.

You can read and download our report here.


Neuro-enhancement: Responsible Research and Innovation

Last week our Director of Development, Stuart Pritchard, and our Public Engagement Officer, Alice Hazelton, were in Porto, Portugal, discussing progress towards the Neuro-Enhancement: Responsible Research and Innovation (NERRI) project. The aim of the project is to establish a societal dialogue about neuro-enhancement with a view to making policy recommendations for research in this area.

Now you may be wondering what neuro-enhancement actually is. Neuro-enhancement refers to the use of drugs and medical devices to enhance certain brain processes in healthy persons who do not have any neurological illness. For example, evidence suggests that students are taking neuro-enhancing drugs to aid their concentration during exam periods and the military have long been thought to use such drugs during fatigue-inducing missions.

Our role at Genetic Alliance UK is to find out what different members of society think about using drugs or technologies to enhance our brain processes. In September we organised a Science Café in London where we heard from Dr Alex McKeown about whether we should be using neuro-enhancing techniques for public health benefit. At the beginning of November we moved to Bristol and hosted a discussion session which began with a presentation from Professor Ruud ter Meulen about the ethics of neuro-enhancement and involved 50 members of the public exploring and discussing their views on the issue, using a series of scenario cards.

The 18 members of the NERRI team are busy continuing to organise public events across 11 different European countries and we will soon begin to analyse the results of these activities and transform them into policy recommendations.

You can find out more about the NERRI project and keep up-to-date with future events and developments here and here or by following NERRI on Twitter: @NERRI_eu


23andMe launches in the UK

Its official: 23andMe launched in the UK today and is offering genetic testing to the UK public. We thought we would include a short information briefing on what this type of 'direct-to-consumer' genetic testing can offer, and what it can't. Hopefully the FAQs and answers here will answer any questions you may have. If you have any further questions though, please don't hesitate to get in touch ith us.nbsp


We add our name to those supporting the post of Chief Scientific Adviser to the European Commission President

We are supporting the maintenance and strengthening of the role of Chief Scientific Advisor to the European Commission President, along with the European Genetic Alliance Network (EGAN), Cancer Research UK, Alzheimer’s Research UK, Association of Medical Research Charities, Wellcome Trust, NHS Europe office, Arthritis Research UK, International Brain Tumour Alliance – IBTA, Parkinson’s UK. You can read the joint letter we sent to Mr Juncker, President of the European Commission, here.



Supply Shortages of Medicines

Genetic Alliance UK has signed up to a document on shortages in the supply of medicines. This common position prioritises supply shortages that affect medically necessary medicines (also called essential medicines). It proposes solutions on many aspects, acknowledging other issues exist that need further discussions.

Download the document. 


We launch our Patient Charter on NICE's Highly Specialised Technology (HST) Evaluation Programme

Genetic Alliance UK today launch our first Patient Charter, produced in collaboration with our patient group membership. It examines NICE's new interim framework for their HST Evaluation Programme: the process that will determine whether a rare disease medicine should be made available on the NHS. The Charter makes 29 recommendations for change from the patient perspective and has been endorsed by 78 of our patient group members. The Charter launch was a panel discussion chaired by our Director, Alastair Kent OBE, and was co-hosted by the Association of the British Pharmaceutical Industry (ABPI) and BioIndustry Association (BIA) at their headquarters in central London. The launch was a fantastic opportunity to have key stakeholders come together to constructively discuss the issues raised by patients in the Patient Charter. This led to a lively and diverse discussion and it was great to see all the stakeholders engaged in such a thought-provoking and productive meeting. We will be continuing our work to see the recommendations in this Charter implemented - watch out for future updates! You can find out more about the Patient Charter and download the full report here.


NHS England launch the first in their quarterly round of service specification consultations

NHS England has launched a consultation on changes to fourteen service specifications for specialised services. These cover service specifications produced by the Renal Dialysis Clinical Reference Group (CRG), the Cardiac Surgery CRG, the Complex Disability Equipment CRG, the Paediatric Intensive Care CRG, the Neonatal Critical Care CRG and the Complex Gynaecological Services CRG. You can see all the details and access the consultations here.

This is the first wave of a rolling programme of consultations from NHS England on specialised service commissioning. Every quarter a new twelve week consultation will launch, providing an opportunity for consultation on the latest set of proposed changes from CRGs.


Another step towards mitochondrial replacement therapy

Mitochondrial donation is a technique that gives couples affected by mitochondrial DNA disease the opportunity to have a healthy child born with working mitochondria. Last week the Government launched a consultation on draft regulations for mitochondrial donation. You can view the consultation here.

We told the press: "We welcome today's consultation launch as another vital step towards potential delivery of this intervention in the clinic. In considering the latest development, we should keep those who hope to benefit from this intervention at the forefront of our minds. The majority of these couples will have found that they are at risk of having a child with a mitochondrial DNA disease as a result of the birth of a child with the condition or because of an unsuccessful pregnancy. Their families have already been affected by mitochondrial DNA disease. This innovative treatment is their first chance to be certain that their future child will be free from a mitochondrial DNA disease. The value of this certainty to a couple is huge. We look forward to examining these draft regulations in detail and responding in due course".

Though this technique will only benefit a handful of our members, we see this issue as a paradigm for the future delivery of innovative treatments in the UK, so we continue to follow the issue and present the view of the patient community.


NHS England Service Specification Consultations

NHS England has launched a consultation on changes to fourteen service specifications for specialised services. These cover service specifications produced by the Renal Dialysis Clinical Reference Group (CRG), the Cardiac Surgery CRG, the Complex Disability Equipment CRG, the Paediatric Intensive Care CRG, the Neonatal Critical Care CRG and the Complex Gynaecological Services CRG. You can access the individual service specifications under consultation here. The closing date is the 21st May 2014.

This is the first wave of a rolling programme of consultations from NHS England on specialised service commissioning. Every quarter a new twelve week consultation will launch, providing an opportunity for consultation on the latest set of proposed changes from clinical reference groups. We will publicise each consultation as it comes along, as we have done here.


Rare Disease implementation plan launched by the Welsh Government!

On Friday, 28th February, the Deputy Chief Medical Officer for Wales, Dr Chris Jones launched the Welsh Implementation Plan for Rare Diseases at the Institute for Medical Genetics at the Heath Hospital, Cardiff. You can download the Plan here.  Thank you to all those were able to attend the launch event at such short notice.

A consultation has now been launched on the Plan which will run for the next 12 weeks. We hope that as many of our members involved with Wales will submit a response to the Welsh Government. You can view the consultation here.




Genetic Alliance UK welcomes NHS England's plans for delivering commitments on the UK Strategy for Rare Diseases

Today, NHS England has published its plans for delivering the commitments outlined in the UK Strategy for Rare Diseases. We welcome the publication of the statement of intent and look forward to its implementation over the coming months.




Make sure your voice is heard in a key specialised services consultation out now – ‘A3 change proposals’ - on the 5 year strategy

NHS England has a consultation open now, which asks for proposals for change and improvement in specialised commissioning. This is a key opportunity to propose improvements to the services you and your members rely on. The results of this consultation will feed into the 5 year strategy for specialised services.

It is important to note that this is a route to change the commissioning of services not to bring new medicines to the NHS. The consultation is open until the 28th February.

To help you respond to the consultation we have put together guidelines on creating your own A3 Change Proposal. You can see these here.

The consultation uses a new method of collecting responders’ thoughts, called A3 Change Proposals. The concept is to ensure brevity, and to ensure balance between the description of the problem and the description of the solution. Essentially the aim is for responders to describe and illustrate the problem on one half of an A3 sheet of paper and propose the solution on the other half. Responders are encouraged to use diagrams where possible. A template to give you an idea of the layout of an A3 Change Proposal is here.



SWAN UK Local Networks wins fantastic grant from the Big Lottery Fund

We are delighted to announce that SWAN UK has been awarded an additional grant worth £187,618 from The Big Lottery Fund to extend the support we can offer to families of children with undiagnosed genetic conditions. You can find out more about this great news here.

The ‘SWAN UK Local Networks’ project will provide training for SWAN UK members to establish local support to bring families together in a social setting and share experiences. The networks aim to raise awareness of undiagnosed genetic conditions among local service providers and address inequalities in services available for affected families.

In two years the project aims to support more than 150 families in need, who may face additional issues such as being out of work due to caring responsibilities, financial issues and poor health due to stress.



Charities launch 'sharing data saves lives' campaign

The NHS is creating a new system to share information from patient records to improve care and research, while protecting each person’s confidentiality. Everybody in England can choose how information from their patient record is shared in this new system. As you make up your mind about sharing your records, more than 40 medical research charities and organisations have joined together to tell you more about how your information can be used for medical research and help you find out more about how your information will be kept safe.

Every time you visit an NHS hospital or your GP, information about your health is recorded and stored in your patient record. The NHS uses this information to help provide the best clinical care for you.

Because your patient record contains personal information about your health, it must be handled very carefully and accessed safely and securely, protecting your confidentiality. Information from your record can also be used to improve healthcare delivery for all patients, and by health researchers who use it to help them understand the causes of disease and to find better treatments.




NHS England's influential Clinical Reference Groups are now recruiting

NHS England is recruiting additional patient and carer members to four of its influential Clinical Reference Groups (CRGs). A

The 75 specialised services CRGs are the primary source of clinical advice on the development and assurance of specialised services contract products (such as specifications and commissioning policies). They bring together clinicians, commissioners, and Public Health experts with the patients and carers who use the relevant services. Members are volunteers who have a particular interest, knowledge or experience of a specific area of specialised healthcare and wish to contribute to its development.

Each of the CRGs have up to four patient and carer members on them, but the four CRGs described above are each recruiting up to an additional four representatives, bringing the total number on each group to eight.

Any new patient and members recruited to the four CRGs will be in place until the scheduled end of term for all current representatives, i.e. until June/July 2015. Closing date for applications is 26 January 2014.



23andMe launches in the UKIts official: 23andMe launched in the UK today and is offering genetic testing to the UK public. We thought we would include a short information briefing on what this type of 'direct-to-consumer' genetic testing can offer, and what it can't. Hopefully the FAQs and answers here will answer any questions you may have. If you have any further questions though, please don't hesitate to



Today Genetic Alliance UK was at Parliament with the BioIndustry Association (BIA) to discuss the current processes through which medicines for rare diseases are evaluated and commissioned. The meeting enabled us to discuss with MPs, Lords and other stakeholders NICE's highly specialised technology (HST) evaluation programme and NHS England's specialised commissioning pathway, and the issues around their current effectiveness. There was an engaging, thoughtful and constructive discussion of the strengths and weaknesses of both processes, and a commitment from all who attended on the steps they will take in order to push for the changes to the system that are needed to ensure fairer, timely access to medicines for rare disease patients.

You can read the Patient Charters we developed on NICE's HST evaluation programme here and on NHS England's specialised commissioning pathway here.

You can also read the HST Patient Charter update briefing that was discussed at the meeting here.



First ever UK Strategy for Rare Diseases launched

We are delighted to announce that the long awaited UK Strategy for Rare Diseases has now been published!

This document brings hope to the millions of people in the UK who are affected by rare conditions. Key features of the Strategy include:

  • a clear personal care plan for every patient that brings together health and care services, with more support for them and their families
  • help for specialised clinical centres to offer the best care and support
  • better education and training for health and social care professionals to help ensure earlier diagnosis and access to treatment
  • promoting the UK as a world leader in research and development to improve the understanding and treatment of rare diseases

To achieve the UK-wide vision for rare diseases, there are 51 recommendations which all four countries of the UK have committed themselves to. You can read them here:

You can view our press release on the launch here




NHS England suspends the Specialised Services Commissioning Innovation Fund

Alastair Kent OBE, Director of Genetic Alliance UK, said "We are disappointed by the news that the Specialised Services Commissioning Innovation Fund has been suspended. This fund had the potential to transform the way that new innovations were identified, tested and adopted. We appreciate that the NHS is under increasing financial pressure, but hope this worthwhile tool will be reinstated at an earlier date than proposed." You can view the NHS England statement here.



Our position on value-based pricing (VBP)

The clock to the value-based pricing (VBP) deadline of January 1 2014 is ticking, and we are no closer to having a framework for assigning prices to new medicines than we were in July 2011, when the Department of Health (DH) last published a substantial document on the subject. After numerous workshops, the DH finally made a move, which was to hand the responsibility to the National Institute for Health and Care Excellence (NICE). They did this with a short document here. NICE effectively have six months to take these terms of reference and deliver a fully functioning pricing system for the whole of the UK. The stakes are high: all new medicines will be priced through this method. If pharmaceutical companies do not like the look of the new system, they may choose not to bring drugs to market in the UK. You can read our position statement on value-based pricing here.




Our Director, Alastair Kent, has been appointed to NHS England's Rare Disease Advisory Group

We are pleased to announce Director of Genetic Alliance UK, Alastair Kent, has been appointed to NHS England's Rare Disease Advisory Group (RDAG). This new body will advise NHS England and the devolved administrations of NHS Scotland, NHS Wales and NHS Northern Ireland on developing and implementing the strategy for rare diseases and highly specialised services.

Highly specialised services are provided to a smaller number of patients compared to specialised services; usually no more than 500 patients per year. For this reason they are typically best delivered nationally through a very small number of centres of excellence. RDAG will receive recommendations from Clinical Reference Groups set up by NHS England, and in addition will formulate its advice by calling on sources of sound evidence from outside the NHS, such as professional bodies and patient groups to create a coherent strategic plan.

For more information on RDAG please click on the link:



SWAN UK features on the National Lottery show

Our project supporting those families affected by undiagnosed genetic conditions, appeared on the National Lottery show as an example of a great project supported by the Big Lottery Fund. You can view the video that appeared here or you can find out more about SWAN UK and the support group on their website.



Our response to the Welsh Government's consultation on the appraisal of orphan and ultra-orphan medicines

The Welsh Government recently asked for input into their review of the Welsh process for appraising orphan and ultra-orphan medicines by the All Wales Medicines Strategy Group. Genetic Alliance UK submitted a response highlighting the need for a robust, fair, and transparent approach to medicine appraisal to ensure equitable and timely access for rare disease patients and called for a more extended consultation to take place to allow further input from patients and patient organisations. Read our response in full here.




The UK Rare Disease Stakeholder Forum meets

In late July Genetic Alliance UK, Rare Disease UK and a number of our members attended the UK Rare Disease Stakeholder Forum. The day, which was organised by the Department of Health and chaired by Rare Disease UK, was attended by many experts in the field of rare diseases and several senior health policy makers. Earl Howe, Parliamentary Under Secretary of State for Quality in the Department of Health, made a speech at the event which we feel is of interest. You can view the speech on the Rare Disease UK website here.



Animals in medical research: breaking the silence with patients

Patients are the direct beneficiaries of medical research and as such, their views are fundamental to the discussion and debate about the ethical use and justification of animals. Despite this, the patient voice is notably absent on this issue and many patient groups do not openly discuss animal research with their members and most have very little or no public profile on the issue. In 2013 we invited patients from our member organisations to have a look around animal research facilities. Over 30 patients attended the six events across the UK and this project follows on and builds on those experiences. Read more about this project here.




Medicines under additional monitoring

The European Medicines Agency (EMA) has published a list of medicines authorised in the EU which are currently being monitored extremely closely. The list is available here

EMA has published some more information about the list, and why medicines might be on it. You can read that here in all languages of the EU. It is important to recognise that medicines on this list are not unsafe. If they were they would be withdrawn from the market. It is also important to recognise that all medicines authorised for use by the EMA are monitored.



Celebrating Undiagnosed Children’s Awareness Day Online

It’s the first ever UK celebration of ‘Undiagnosed Childrens Awareness Day‘ – will you help us raise awareness? It is actually not that uncommon for disabled children to be undiagnosed, actually as many as 30-50% of children with severe learning disabilities may not have a diagnosis and around 50% of children currently having genetic testing through the NHS may not ever get an explanation of what has caused their difficulty.

However, although it is more common than people might think, many of these families, and the issues they face remain invisible. Isolated even within the disabled children’s community, undiagnosed families often feel like they are stuck in limbo desperately seeking answers that no-one can give them.

Imagine not knowing what the future holds for your child. Will they ever walk? Will they talk? Will they live to adulthood? Will other children be affected? Without a diagnosis none of these questions can be answered.

This is the first ever UK wide celebration of ‘Undiagnosed Children’s Awareness Day’ – many of the children we support will never get a diagnosis but hopefully we can start to make life a little bit easier for them and their families by making society a little bit more aware of the problems they face each day, will you help?



Professor Ed Wraith

We’ve been informed this morning of the sad news that Professor James Edmund (Ed) Wraith has suddenly passed away. Our thoughts and best wishes are with his family and friends.

Ed works at Manchester and has done since 1979. He was the clinical lead for lysosomal storage disorders and a world authority on mucopolysaccharide storage diseases. He was known widely in the medical community and held in very high regard. Ed was a great friend of patients and families with rare diseases and a sterling advocate for the cause. The warmth with which he treated his patients and the families he came in contact with has helped to shape the rare disease and MPS community. He was a prime mover in developing services for those with inborn errors of metabolism and he will be greatly missed.




Rare Disease Impact Report: Insights from patients and the medical community

This new report from Shire highlights and confirms the issues faced by patients affected by rare diseases. The inclusion and comparison of clinicians’, payors’ and patients’ experiences demonstrate the importance of working together, as a community, to tackle the issues faced by patients. It also highlights the importance of working with the international rare disease community in order to share best practices and information for all those affected. You can see the report here.



The debate on transparency and fairness in the commissioning of orphan drugs continues (see 25/01/13 below)

Since 25/01/13 Genetic Alliance UK has received a response from the Department of Health regarding the ministers' decision to withhold funding for Eculizumab. This is available here.

We have responded to this here and look forward to hearing from the Department in due course.



NHS Constitution

Today Genetic Alliance UK submitted a response to the NHS Constitution consultation. This is the first of a few consultations on the future of the NHS Constitution. We look forward to tackling the important questions of how to raise public awareness of this document and how to give the document some more traction in the next round of consultation. Our response to the first round is here.



Genetic Alliance UK calls for transparency and fairness in the commissioning of orphan drugs

Genetic Alliance UK was disappointed by the decision by Ministers at the Department of Health not to ratify the recommendation by AGNSS to make Eculizumab available nationally. We believe that it is unfair to withhold vital treatment for patients with aHUS, especially since the appraisal process by which AGNSS came to its recommendation was one that was comprehensive and robust. You can find out more information about this here.

We have also written to the Department of Health to express our disappointment in the decision. You can view our letter here.



Commissioning genetic tests in the new NHS

Genetic Alliance UK and Unique, the two patient and public engagement members of the medical genetics clinical reference group today sent a letter to Earl Howe, Parliamentary Under-Secretary of State for Quality regarding the commissioning of genetic tests after March 2013. From this point, the specialised medical genetics budget will no longer fund tests from other specialties, or from local healthcare providers. You can read our letter here.



Medical genetics service specification and commissioning policy

Given our roles as the two patient and public engagement members of the medical genetics clinical reference group, we decided to submit responses to the specialised services consultations jointly with Unique. Our response to the service specification is here, and to the preimplantation genetic diagnosis commissioning policy here.



Genetic Alliance UK welcomes new orphan drugs fund in Scotland

The Scottish Government has announced that it is launching a fund to cover the cost of medicines for individual patients with rare conditions, which are not available for routine prescription. £21 million will be invested to pay for the cost of medicines known as “orphan drugs”. You can see our press release here including information from our Director and Development Officer for Scotland.



Route Maps for Rare Conditions Toolkit launches today!

At Genetic Alliance UK, we have developed a Toolkit to support groups wishing to improve information provision as well as empower patients and their families to access better care and participate in decision making around their care. The Toolkit has been developed based on the experiences of 10 pilot groups who created their own condition specific Route Maps. The Toolkit and more information can be found here.




Screening for severe combined immunodeficiency

The UK National Screening Committee's consultation on their policy on severe combined immunodeficiency closed today. Our response is here. You can read the policy, currently under review, here.



Care and Support Bill - Committee stage

Genetic Alliance UK is a signatory to the Association of Medical Research Charities' joint submission on ensuring that research and innovation sit at the heart of the NHS to improve all aspects of patient care, deliver cost-effective healthcare and facilitate the growth of a strong commercial life sciences sector, bringing the maximum benefits to patients. You can read the submission here.

Additionally, Genetic Alliance UK submitted a response regarding the potential abolition of the Human Fertilisation and Embryology Authority and the Human Tissue Authority. You can read that here.



Deadline extended on the NHS consultation in England on specialised services

The deadline has been extended until the 25th January 2013. You can find more information here.



Second webinar answering your questions on how to respond to the consultation on specialised services to be commissioned nationally in England launched today!

You can view this and the first webinar on how to respond to the consultation here: more information on the consultation and Genetic Alliance UK's webinars.



BURQOL - Calculating the real cost of conditions for those affected by rare diseases.

Social Economic Burden and Health-Related Quality of Life of Patients with Rare Diseases in Europe (BURQOL-RD) looked at the real cost of rare diseases for patients, their families and carers. The results of the survey are crucial as they will help to define what impact rare diseases have on society as a whole, and enable better assessment of the effectiveness of new policies and interventions. This should open the way to improving how we study and measure the cost-effectiveness of new treatments, such as rare disease medicines. Read more about this project here.




What is your rare disease experience?

The field of rare diseases is still one which requires further insight into the patient experience. Genetic Alliance UK and Rare Disease UK are helping to distribute a survey which aims to capture this patient experience. Shire is surveying patients, carers, physicians, payors and thought leaders in the UK and the United States to identify and quantify some of the major health, psycho-social, societal and economic impacts of rare diseases. Survey results will be published in a Rare Disease Impact Report this year and we believe the findings from this Report will truly help guide future research and education for affected patients and their families.




Clinical Trials Regulation Review

Today we submitted a response to the Medicines and Healthcare products Regulatory Agency (MHRA) consultation on the draft Clinical Trials Regulation published by the European Commission this year. We used this opportunity to highlight the importance of greater detail on patient involvement in evaluation of applications.

You can read our response here. The consultation is here. The European Commission's proposals are here.

Genetic Alliance UK is a signatory on statement by 26 UK and European organisations regarding the draft regulation which you can read here.



Webinar on how to respond to the consultation on specialised services to be commissioned nationally in England launched today!

You can view the webinar and more information about the consultation here




Identifying family risk of cancer: Why is this more difficult for ethnic minority communities and what would help?

The final project report has been made available today. A lay summary is available here and the full report is available here. You can find out more about the project on the project page.



Important consultation on specialised services launched

The long awaited consultation on specialised services to be commissioned nationally in England by the NHS Commissioning Board has finally been launched today. We have just over five weeks to respond to this consultation, the deadline is the 18th of January. We think it is very important that our members respond, so we are going to provide two webinars to support your response. These will be published on Wednesday the 18th December and Tuesday the 8th of January. You will be able to watch them any time that is convenient to you. More details are available here.



100,000 patients with rare genetic conditions and cancers to have their genome sequenced

Today David Cameron announced that 100,000 patient affected by rare genetic conditions and cancers will have their whole genome sequenced in the next 3-5 years. We have welcomed the announcement and you can read our views of it here and you can read the government press release here



Genetic Alliance UK Annual Review released

At our Annual Conference and AGM we released our Annual Review for the year 2011/2012. This outlines all of the organisation's work between April 2011 and April 2012. The Genetic Alliance UK Annual Review can be downloaded here.



Moratorium on Genetics and Insurance extended to protect patients

Thousands of people who have genetic tests for conditions such as Alzheimers and cancer will continue to benefit when taking out insurance thanks to an extended agreement announced today.

The agreement with the Association of British Insurers (ABI), the Concordat and Moratorium on Genetics and Insurance, continues to guarantee that anyone who has had a predictive test to assess their susceptibility to genetic conditions, such as breast and ovarian cancer, can take out significant insurance cover without disclosing the results.

The agreement has been extended to 2017 and sets out that all future reviews of the agreement will take place three years before the provisional end date. This will give consumers enough time to prepare if there are any changes. The agreement has also been simplified to make it easier to understand. The next planned review will be held in 2014.



UK Plan for Rare Diseases

We submitted two responses to the UK Plan for Rare Diseases consultation. One from Genetic Alliance UK expressing our disappointment with the health departments' failure to grab this opportunity and endorsing the response from Rare Disease UK, and one from the perspective of the members of SWAN UK



Children and Young People's Health Outcomes

The Children and Young People's Health Outcomes Forum is consulting on how to measure healthcare outcomes for children and young people in the new NHS in England. For the first time our policy team has worked with our SWAN UK project to form a policy response that captures the broad experiences that children with complex needs have in the NHS, and how we can use new outcome measures to improve these. The Forum has decided to prolong the consultation until the 31st of May, you can find more details here. Our response is here. We would welcome your views on our response.



Letter to the European Commission regarding innovative therapies

The European Medicines Agency Committee for Medicinal Products for Human Use (CHMP) voted against the advice of its expert sister committee, the Committee for Advanced Therapies (CAT) this week, when it decided against granting a market authorisation for an innovative therapy for lipoprotein lipase deficiency (LPLD). LPLD is a genetic condition which affects the digestion and processing of lipids. It causes severe pancreatic problems and abdominal pain. More details are available here.

We wrote to the European Commission to express our concern that initiatives to allow innovative therapies to be developed in the EU (such as the Committee for Advanced Therapies) are being side-lined by the refusal of the CHMP to accept their expert views. Our letter is here.




New medicines for serious conditions

The findings of a citizens’ jury, tasked with deciding whether the benefits of new medications for serious conditions outweigh the side effects, are published today, Friday 13th April 2012.

Convened by the University of Glamorgan and supported by Genetic Alliance UK the national alliance of over 150 patient organisations supporting those affected by genetic conditions, the jurors analysed the risks and benefits of new medicines. The 12 jurors, taken from across the UK, were either patients with serious and/or rare conditions, or family members of someone with a serious and/or rare condition and met for a total of five days between September and December 2011.

Professor Marcus Longley who conducted the work alongside Genetic Alliance UK explained, “The Jurors explored the risks and benefits of hypothetical case studies and heard from a number of expert and advocate witnesses about how the regulatory system currently works, its strengths, and its potential weaknesses. After considering the evidence and debating the issues amongst themselves, they presented their conclusions.”

The full press release is available here

The full report is available here: citizens' jury report
The executive summary is available here: citizens' jury executive summary.



The consultation on the UK plan for rare diseases

The UK government has released the consultation to inform the plan for rare disease in the UK. You can see the plan here and the consultation response form here. You can also see the equality review attached to the plan here




Genetic Alliance UK and SWAN are on ITV

Genetic Alliance UK and SWAN are on ITV today. SWAN families will be making appearances on Daybreak and ITV regional and national news throughout the day. The families will be talking about what life is like for families who have a child with an undiagnosed condition. To find out more about SWAN or to become a member please see the SWAN UK page.

To see SWAN on Daybreak follow this link.



Fetal Anomaly Screening Programme consultation released

The Fetal Anomaly Screening Programme (FASP) has released a consultation on the T13 and T18 screening programmes. The documents are here:
Consultation flyer
The consultation- available on our website or the FASP website
The feedback form.



Genetic Alliance UK Annual Review for 2010/2011 released

Yesterday, at our AGM, we released our Annual Review for the financial year of April 2010 - April 2011. It is available to download here.



New Trustees elected

Today we elected 3 new trustees from our member groups to sit on our board of trustees. Sally George from Antenatal Results and Choices, Louise Jones from Cancer Research UK and Dr Mary Petrou from the UK Thalassaemia Society are now trustees. To see a full list of our board please follow this link.



Reply in the Lancet concerning using animals in Medical Research

Today, Genetic Alliance UK and nine other organisations published a response in the Lancet in support of the use of animals in Medical Research. The response criticises the original article for claiming an overreliance on animal testing in research when in reality, animal testing accounts for a minority of testing and is tightly regulated. You can read our response here.



Genetic Alliance UK's clarification of our position on the NHS reforms

This letter clarifies our position on the NHS reforms.




Academy of Medical Sciences publishes a review of UK research governance

Genetic Alliance UK applauds the new report "A new pathway for the regulation and governance of health research" as it recognises the lengthy research regulation systems currently in place in the UK. For the full story click here and for the full report click here.



Results of the Genetic Alliance UK member survey

We would like to thank all of our members who took part in our 2010 survey. The results are available here.



Alastair Kent, Genetic Alliance UK's Director receives an OBE

It is with great pleasure and delight that we can announce that Alastair Kent, Director of Genetic Alliance UK has been awarded an OBE in this year’s New Years Honours List for his work in healthcare, helping families affected by genetic conditions.  We were all delighted to hear that all that Alastair does has been recognised. 

Chris Friend, Chair of Genetic Alliance UK said, “I can’t think of anyone more deserving of this honour. Alastair has contributed over the past 20 years to GIG (as we were) and now to Genetic Alliance UK as well as to healthcare policy in general. His contributions have been genuinely outstanding and I, for one, am absolutely delighted. What a fantastic way for us to begin 2011!”.



Genetic Alliance UK's comments quoted in DH NHS consultation response

The Department of Health published its response to the "Liberating the NHS" consultations today. We are pleased that some of Genetic Alliance UK's comments have been quoted, and hope the concerns we raised regarding some of the deficiencies of the proposals have been taken just as seriously. You can read our original submissions here.



Genetic Alliance UK archives are given top priority at the Wellcome Library
We are very pleased to announce that our key charity documents are now being archived at the Wellcome Library, part of the Wellcome Trust.  This is excellent news for our organisation, and as our Director says "Having our work saved in this way will not only mean that our activities are preserved for future researchers but also that we are able to reach an even wider audience who will learn about the work of our charity and the lives of those affected by genetic conditions"