Current Policy Campaigns
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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 We note with particular concern that in this instance the literature review is two years out of date.
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.
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.
23rd June 2014 - UK National Screening Committee consultation – have your say!
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 consultation is in the form of a survey, which you can access here. 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.
20th June 2014 - 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.
2nd April 2014 - 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 Louisa Petchey 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. If you would like to participate in the workshop events that will be held to develop this Patient Charter, please contact Louisa to register your interest.
Get in touch with Louisa Petchey to find out more.
Read a Storify of the event using this link.
Check out the analysis by the Bioindustry Association here.
- Biocentury: Patient group wants more NICE transparency on rare diseases
- Bioindustry Association: 77 patient groups come together to call for NICE to improve the way it evaluates rare disease drugs
- Duchenne Campaigns: Patient Charter for the NICE evaluation process of rare disease treatments event with Genetic Alliance UK
- Charter for improvements in rare disease drug evaluation launched
- Muscular Dystrophy Campaign joins call to address concerns on rare disease drugs evaluation process
- Patient Groups Unite on Access to Medicines
- Genetic Alliance UK Launch Patient Charter Outlining
- Alkaptonuria Society hosts a blog by Genetic Alliance UK's Louisa Petchey
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 see more details about the consultation here and 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.
Our position on Value-Based Pricing (VBP)
Our position on VBP, which reacts to the current situation and makes a number of calls to improve the outlook is available here. The clock to the Value-Based Pricing (VBP) deadline of 1st of January 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 on the subject, 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.
Appraisals of Orphan and Ultra-Orphan medicines in Wales
In response to the Welsh government's call for responses to the review into the appraisal process for orphan and ultra-orphan medicines in Wales we have published a response which is available 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.
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.
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!
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.
Letter to the European Medicine Agency on the conflict of interest policy
As part of our continuing work regarding the European Medicines Agency's restrictive conflicts of interest policies we wrote a letter to the head of the agency Professor Guido Rasi. You can read it here.
Responding to the consultation on the Human Fertilisation and Embryology Authority and Human Tissue Authority
The Department of Health consulted on plans to abolish the HFEA and HTA. You can read the consultation here and our response here.
Mitochondrial DNA disorders - The Nuffield Council of Bioethics ethical review of the techniques and our response
The Nuffield Council of Bioethics has published the results of its six month ethical review into novel techniques for the prevention of mitochondrial DNA disorders. You can read their conclusions here and our response here.
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's 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 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.
The Royal College of General Practitioners consultation on the integration of care
The Royal College of General Practitioners have consulted on the integration of care. You can read their consultation here, and our response here.
The NHS Future Forum has been gathering patients views on the education of professionals and on provision of information
You can see the consultation here, and our responses to information here, and education of professionals here.
NICE National Quality Board Engagement Exercise
A key part of the reform of the NHS in England will be the publication of Quality Standards to ensure excellence in care delivery. NICE has published its proposed library of topics here, accompanied with a letter of consultation here. You can read our response to this consultation here. In it, we discuss the possibility of a set of general Quality Standards, grouped around medical specialty or pathology of conditions, which could ensure that rare genetic conditions are not left out of these definitions of high quality care.
Our briefing to the House of Lords on the Health & Social Care Bill
As the Health & Social Care Bill continues through the legislative process, it has reached its second reading in the House of Lords. Here is the briefing we circulated to the Lords.
Familial hypercholesterolaemia screening
The UK National Screening Committee periodically reviews its policies, their policy for familial hypercholesterolaemia (FH) is currently under review. We have made a submission to this view, which highlights our long history of support for a cascade screening programme. Cascade screening is a system by which a doctor of a patient with a genetic condition invites the patient's family members in to have tests to see if they too have the condition. Information about the review is here, and our response is here.
Response from Sir David Nicholson
Sir David's response is encouraging, stating that an executive director of the NHS Commissioning Board will be 'lead' for specialised services, and describing how specialised services will be integrated within the organisation. We have written back, asking for further clarification on how the budget for specialised services will be finalised. Our latest letter is here.
Letter to Anne Milton regarding counselling for pregnant women about termination of pregnancy
Following the recent debate in Parliament regarding independent counselling in advance of a termination of pregnancy, we wrote to the Minister responsible, Anne Milton MP. We wrote to highlight the case of women who require a termination of pregnancy because of an antenatal diagnosis. We believe women in this situation should be supported in the decision they have had to make and that they should not have to make any further justifications. You can read our full letter here.
On Thursday 29th July, we wrote a letter to David Nicholson, Chief Executive of the NHS, in response to his publication "Developing the NHS Commissioning Board". In it, we highlighted the need for a designated national director at the highest level of the NHS Commissioning Board with a responsibility for specialised services, and the need for a non-executive member of the board of the NHS Commissioning Board (confusing nomenclature which needs to be addressed) to champion this work. We also comment on the need for clarity on the budget and structure for specialised services, and the need for better integration through out the NHS for the services that our member's patients and families access. Read our letter here.
Value-Based Pricing consultation
This month also saw the publication of the Government's response to the Value-Based Pricing consultation. Their response is broadly encouraging. We have written a short review of their response, which you can read here. We will continue to follow this issue as it develops.
General Medical Council consultation on Prescription Guidance
This consultation covered the issue of "off-label" prescribing of medicines, when a medicine is prescribed for a condition it does not have a market authorisation for; and of "unlicensed" treatments, medicines which have not been through the market authorisation process yet. We responded to these components of the consultation. You can read the original consultation here. Our response is here.
The European Commission has published a concept paper on the future of governance of clinical trials in the EU, which can be read here. As a member of the European Genetic Alliances' Network, we have responded here.
Genetic Alliance UK's response to the Department of Health's White Paper on Public Health
We have submitted our views on the proposals for a new public health system in England. As our responses note, screening is the top priority public health issue for Genetic Alliance UK and our members. Our response to the White Paper, here, and to the public health commissioning consultation, here, highlight the value of screening as a means for early diagnosis of many genetic conditions.
Genetic Alliance UK's response to the Department of Health's consultation on the Value-Based Pricing
Genetic Alliance UK has responded to the Department of Health's consultation on Value-Based Pricing. Our response calls for new measures of value to cover all aspects of treatments that are valued by patients, and for the system to include treatments for rare diseases. We also explain our views on how patients can be equal stakeholders in the decision making process, as they are in European regulation of pharmaceuticals. The original consultation can be found here
Genetic Alliance UK's briefing for the Second Reading of the Health and Social Care Bill
Genetic Alliance UK has prepared a briefing for MPs in advance of the Second Reading of the Health and Social Care Bill on the 31st January. This has been distributed to MPs, and the questions suggested within aim to prompt MPs to seek clarification from the Secretary of State for Health as to his intentions regarding services for those affected by genetic conditions.
Genetic Alliance UK's response to the Department of Health's consultation on the Cancer Drugs Fund.
Genetic Alliance UK has responded to the Department of Health's consultation on the Cancer Drugs Fund. Our response describes our disappointment at the move away from progressive policies to fund and promote innovative treatments, such as the Innovation Pass, and the move towards the creation of an unfair and discriminatory scheme, the Cancer Drugs Fund. The original consultation can be found here.
The Department of Health consultation on choice and information
The latest two consultations from the Department of Health arising from the White Paper published last year were on the closely related subjects of choice and information. Genetic Alliance UK has submitted a response to each consultation, highlighting the special issues around choice and information for patients with genetic conditions.
Our response to the Information Revolution consultation calls for professional support for patients to interpret the information they are given access to; asks for the privacy issues that surround genetic patient information not to stand in the way of access to the information revolution for our member groups and their members; and highlights the value that patient organisations can have as providers of information.
Our response to the Choice and Control consultation describes the lack of choices available to those with rare genetic conditions, and again highlights the guidance that patient organisations can provide to patients who are given options in their healthcare pathway.You can find the original consultations here.
Review of UK research governance published
Genetic Alliance UK applauds the recognition by the Academy of Medical Sciences (AMS) in their review of research governance of the lengthy and burdensome nature of the current research regulation systems in the UK. Their report, "A new pathway for the regulation and governance of health research" was published today and can be found here.
We believe the proposals for a single point of contact with a single Health Research Agency will facilitate progress through research governance by small organisations such as Genetic Alliance UK and our member groups.
We are pleased to see promotion of a proportionate approach to research regulation, which will ensure low-risk non-invasive research projects are not subject to the same level of scrutinity as projects which propose significant risks to participants.
A single UK-wide Health Research Agency will promote UK research, allow us to capitalise on the vast resource that the NHS could provide as a research tool, and we hope, facilitate progress in areas of unmet health need, such as the large number of genetic conditions without a cure or a treatment.
We regret that wider consequences of the proposed break up of the Human Fertilisation and Embryology Authority (out of the scope of this inquiry, which focussed solely on its research governance role), continue to be unexamined. As we stated in our response to the AMS review's second call for evidence, the future of the ethical decision making component of the HFEA (essential to the regulation of preimplantation genetic diagnosis) has not been examined in depth after the announcement of plans to dissolve the HFEA.
We hope that a new Health Research Agency will be established as soon as possible.
Equity and excellence: Liberating the NHS
In July this year the Government published its plans to reorganise the NHS in England. As we promised in our initial response, we have now had a close look at these proposals and considered the impact they will have on our members and the patients and families they support. Our response to the White Paper can be read here.
In addition to the broad ranging White Paper, the Department of Health launched four more detailed consultations explaining in greater detail how the proposed changes will be implemented:
- Liberating the NHS: commissioning for patients. One of the biggest proposed changes is to the system by which services are planned and paid for. This consultation document can be read here, and our response, which includes an explanation of our views on how specialised services should be organised can be read here.
- Transparency in outcomes - a framework for the NHS. This consultation sets out the Government's plans to monitor healthcare delivery and identify improvement areas. Our response, available here, includes an explanation of our concern regarding the impact these proposals could have on the visibility of rare genetic disorders in the new data collection systems.
- Liberating the NHS: increasing democratic legitimacy in health. Here, the Government describes plans to roll-out local HealthWatch organisations and better integrate Local Government and social care with healthcare delivery. Our response highlights the need for national equivalents of local health governance systems.
- Liberating the NHS: regulating healthcare providers. This document explains the means by which healthcare providers will be held to account in the new system. Our response calls for measures to ensure that greater freedom for healthcare providers does not lead to gaps in service delivery.
We will continue to communicate the needs of our members during this healhcare reform process, and look forward to being involved in the future legislative process.
The Academy of Medical Sciences Review of the Regulation and Governance of Medical Research
Following the Department of Health's review of arm's-length bodies, the Academy of Medical Sciences made a second call for evidence for its review of the regulation and governance of medical research. We stressed the need for a streamlining of the governance process for small charities, as both ourselves and some of our members have experienced difficulties with the current complicated process necessary to gain research approval. We also took the opportunity to stress the need for the continuation of expert review for the licensing of preimplantation genetic diagnosis, a role currently carried about the HFEA, which will be abolished in 2013.
Genetic Alliance UK response to the AMS Review of Regulation and Governance of Medical Research.
Refreshing the National Carers Strategy
The previous Governments carers strategy was published in 2008, the current Government is refreshing this strategy as part of informing the Comprensive Spending Review, which is due to be published in October 2010.
Genetic Alliance UK response to Refreshing the National Carers Strategy
Statement of best practice for critical illness cover - Association of British Insurers
Joint response from the Genetic Alliance UK and Ataxia UK