Latest Policy Work

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Our response to the UK NSC: Screening for FAOD consultation

Genetic Alliance UK encourages the UKNSC to establish a pilot screening programme for Carnitine Transporter Deficiency (CTD) and Very Long-Chain AcylCoenzyme A Dehydrogenase Deficiency (VLCADD). As these conditions are already part of newborn screening in the USA and several European countries, it is likely that the pilots would be successful and provide the UKNSC with sufficient evidence to support the introduction newborn screening for CTD and VLCADD in the UK, particularly as treatments for these conditions are already available. Read our response here


Our response to the UK NSC: Screening for AAMD consultation

Genetic Alliance UK encourages the UKNSC to establish a pilot screening programme for citrullinaemia and argininosuccinate lyase deficiency. As both of these conditions are already part of newborn screening programmes in the USA and six European countries, it is likely that the pilots would be successful and provide the UKNSC with sufficient evidence to support the future introduction of newborn screening for citrullinaemia and argininosuccinate lyase deficiency in the UK.

Genetic Alliance UK supports the implementation of newbornscreening for tyrosinaemia I. The fact that no feasibility studies for screening for tyrosinaemia I at birth have been carried out in the UK should not stand in the way of the UKNSC recommending newborn screening for this condition using the most effective screening methodology in line with recent advances in this area. Read our response here


Our response to the UK NSC: Screening for Galactosaemia consultation

Genetic Alliance UK supports the position of our member, the Galactosaemia Support Group, and would welcome the implementation of a formal newborn screening programme for Galactosaemia. The Galactosaemia Support Group have reached this position based upon patient experience and on the review held by their Medical Advisory Panel. Read our response here.


Our response to the EMA: Application of transparency rules of EU Clinical Trial Regulation consultation

The Patients Network for Medical Research and Health (EGAN) speak on behalf of patients when we welcome greater sharing of clinical trial data throughout the union due to opportunities this will provide to improve our understanding of rare diseases and therefore our ability to develop new treatments. In this consultation response we call for clarification on what is meant by 'personal data' and how that relates to whether the data is personally identifiable. We ask for expansion on what constitutes 'overriding public interest'. EGAN believes that the EMA and the pharmaceutical industry should be as transparent and open as practicable. We recommend that the regulations that govern which data are made publicly available on the EMA database should mirror the consent patients give when agreeing to participate in the clinical trial itself. Read our response here


Our briefing on abortion for fetal sex

We have joined forces with Antenatal Results and Choices to produce a briefing against an amendment to the Serious Crime Bill which may limit reproductive choices for women at risk of having a child affected by a serious genetic condition. Read our briefing for MPs here.


Launch of our patient charter on genome sequencing

Today we are launching our third patient charter. This time our focus is on patient attitudes to genome sequencing. You can download a copy of our charter and find out more here.


Launch of our report on improving access to specialised services and therapies for Welsh patients

Today we are co-hosting an event with the AKU Society at the National Assembly building in Wales in order to raise awareness of the benefits to patients with rare diseases of gaining timely access to specialised services and therapies. We have received a number of reports from our patient group members in Wales regarding the difficulties their patient community can face in trying to access specialised services and treatments in Wales, or to get the referral they need to access those services elsewhere in the UK.

As part of the event, our Director, Alastair Kent OBE, will be launching our report on ‘Improving access to specialised services and therapies for Welsh patients’. The report makes 14 recommendations that aim to address the current barriers to accessing to specialised treatments and services, including new medicines and diagnostic genetic tests, both within Wales and though referrals to UK specialists. You can download a copy of the report here.


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 with , our Public Engagement Officer.



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.


The EU Draft Functional specifications for the EU portal and EU database to be audited (EMA/42176/2014) consultation response

Many rare diseases are severe and life-limiting. For individuals or families affected by most rare diseases, the day-to-day challenges of managing a severe condition are made worse by the absence of an effective treatment or cure. These patients look to research as the source of new therapies to address their unmet health need. In order for progress to be made, patients recognise that the rarity of their conditions means that research relies on the effective sharing and use of their medical data, nationally and internationally.

The EU Draft Functional specifications for the EU portal and EU database to be audited (EMA/42176/2014) consultation recognises the necessity for a central database in moving forward with medical research. To read our response to this consultation, please click here



UK National proposals for a sustainable cancer drug fund consultation response

The Cancer Drugs Fund (CDF) allows cancer patients to access drugs that would not otherwise be available on the NHS. Over 55,000 patients have now accessed treatment since 2010. The demand on this service is continuing to rise and a degree of change is needed to ensure all patients benefit from NHS England services. Our response to their consultation about the proposed changes can be found here.


UK National Screening Committee Screening for Gaucher Disease - an evidence review consultation response

Genetic Alliance UK supports the recommendation of the Gaucher Association’s response to this consultation that at this present time no formal Screening Programme should be implemented for Gaucher Disease.

However, we believe it would be valuable for the UK NSC to examine the potential value of introducing a screening programme that looked to diagnose type 2 and type 3 affected individuals by testing for the genetic mutations that have been linked to these conditions.

Moreover questions must be raised about UK National Screening Committee current methodology which places a premium on peer reviewed literature to the exclusion of all other forms of evidence. We note with particular concern that in this instance the literature review is two years out of date.

To view more of our recommendations on their consultation please see our full response here.



Genetic Alliance UK supports 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.

Read the letter here.



UK National Screening Committee consultation response

Every three years the UK NSC review their role and the processes they use for making decisions on population screening including newborn screening. Our response to their consultation is here. You can find out more about the consultation by watching our video or looking on the UK NSC website.



The UK National Screening Committee (UK NSC) makes decisions about which conditions to screen the UK population for. Every three years they review their role and the processes they use for making their decisions. As part of this review, the UK NSC is holding a consultation so that interested parties can feed their views into the review process.

The last day for submitting your response is the 8th July 2014.

Genetic Alliance UK will be responding to the consultation and we would like to encourage as many of our members as possible to do the same. To help, we have made the information video below.

The video gives background information on the UK NSC and explores some of the issues raised in the consultation. It includes video interviews with Pat Roberts from Save Babies Through Screening Foundation; Jane Field, whose son wasn’t diagnosed with Duchenne Muscular Dystrophy until he was seven and a half; and Nick Meade, Genetic Alliance UK’s Director of Policy.

You can watch the video or download a summary of the information.




Genetic Alliance UK's response to NICE's consultation on value-based assessments

NICE has recently outlined their proposals for value-based assessment (VBA). This process will replace original plans to introduce value-based pricing (VBP) and will determine how all future medicine appraisals are carried out at NICE. A consultation was held to gather the opinions of interested stakeholders and Genetic Alliance UK has prepared a response, which you can read here.

As we outline in our response, NICE’s VBA proposals are a missed opportunity. Burden of Illness (BoI) and Wider Societal Impact (WSI) presented a framework within which NICE could formalise consideration of additional factors beyond those already captured by Quality Adjusted Life Years (QALYs) in order to achieve a more accurate representation of a medicine’s value as perceived by patients, their families and carers and wider society. Relying on further manipulation of QALYs, already an imperfect measure of patient health gain, does not achieve this and merely represents a reshuffling of NICE’s existing priorities.


Consultation response: The Medical Innovation Bill

Genetic Alliance UK actively supports research and innovation across the field of genetic medicine. In this capacity, Genetic Alliance UK has endorsed the Manifesto For Patient-Driven Medical Innovation developed by Centre for the Advancement of Sustainable Medical Innovation (CASMI). Genetic Alliance UK also welcomed the introduction of NHS England’s ‘Specialised Services Commissioning Innovation Fund’, before the initiative was suspended.

There is much more that could and should be done to address the barriers that currently inhibit theadoption and integration of research and innovation into the NHS.

To see our full response please click here





Launch of Genetic Alliance UK’s Patient Charter - endorsed by 77 patient group members like you!

Thank you to all those who endorsed and helped support the launch of Genetic Alliance UK’s Patient Charter last week. It was great to see so many of you getting behind the launch on Twitter and by posting blogs onto your website. The greater the support for this Patient Charter, the more powerful it will be for enacting positive change, so thank you.

If you are yet to produce a blog on the Charter for your own website but would like to, please feel free to get in touch with who will be happy to send you an example template and provide you with more information.

The Patient Charter was produced following a workshop hosted by Genetic Alliance UK for representatives of its patient group membership and was subsequently endorsed by 77 of Genetic Alliance UK’s patient group members.

It highlights the concerns patients have that the new approach the Government and NICE are using to determine whether or not medicines for very rare conditions are made available through the NHS is opaque, potentially disruptive to the wider NHS and risks downplaying the patient voice. The new process is NICE’s Highly Specialised Technologies (HSTs) evaluation programme.

The Patient Charter was launched at a breakfast meeting co-hosted by the Association of the British Pharmaceutical Industry (ABPI) and BioIndustry Association (BIA) at their headquarters in central London. It was chaired by Alastair Kent OBE (Director, Genetic Alliance UK). On the panel were Steve Bates (BIA), Josie Godfrey (NICE), Dr Robin Lachmann (National Hospital for Neurology and Neurosurgery) and Frances Macdonald (ABPI).

The launch was a fantastic opportunity to have all the key stakeholders in one room to constructively discuss the issues raised by patients in the Patient Charter. Each of the panel members were first invited to give their views on the Patient Charter’s findings, before representatives from patient groups, the pharmaceutical industry, NICE and NHS England were then given the opportunity to ask questions. 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.

Genetic Alliance UK are now following up the progress made with the Patient Charter by ensuring it is taken into account in NICE’s review of the HST evaluation process, which is expected before the end of the year.

Genetic Alliance UK are also starting to plan their next Patient Charter. This will also be looking at access to medicines for rare diseases but will take a much broader scope, examining all the potential routes of medicine appraisal and commissioning in order to add clarity and highlight any gaps or inconsistencies. 

Download the Patient Charter

Read a Storify of the event using this link.

Check out the analysis by the Bioindustry Association here.

Coverage roundup:



Another step towards mitochondrial replacement therapy

The Government launched a consultation on draft regulations on mitochondrial donation last week. This is another step towards ensuring it will be possible to access this technique in the UK when studies demonstrate evidence that the technique can be trialled for the first time.

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." Alastair Kent, Director, Genetic Alliance UK.

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.



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. Thank you to all those were able to attend the launch event at such short notice which meant that many were unable to attend due to half term and prior commitments.

The document is now available on the Welsh Government website here. A consultation period of 12 weeks is attached to the plan and we would encourage responses to be submitted to the Welsh Government.