Latest News Articles
Find out what is happening in the world of genetics including: New genetic research, genetic conferences, supporting aid activities, the latest genetic press releases and more.
NHS England’s commissioning decisions published
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.
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
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.
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.
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 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: https://www.gov.uk/government/publications/rare-diseases-strategy
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: www.england.nhs.uk
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.
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
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.
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!
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.
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 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:
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.
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.
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.