Latest News Articles
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 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.
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.
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.
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. You can fill in the survey and find out more here.
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.
Genetic Alliance UK's Director, Alastair Kent, has been working with Roche to create a new website to give a patient's view of clinical trials. The website contains patient videos and advice for those thinking about the benefits and risks of being involved in these trials. It's definitely worth a look!
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.