Millions of people with rare diseases to benefit from faster diagnosis and better access to treatment

Millions of people with rare diseases will benefit from faster diagnosis and new treatments following the launch today of England’s first Rare Diseases Action Plan by Health and Social Care Secretary Sajid Javid.

There are more than 7,000 rare diseases, affecting an estimated 3.5 million people in the UK.  Their complex nature means it is difficult for healthcare professionals to receive training on every condition or for patients to access the relevant specialist.

People living with rare diseases, such as muscular dystrophies or Huntington’s disease, can go through multiple appointments and referrals before a diagnosis is made due to the complexity of conditions, making it difficult for individuals and their families to coordinate their care.

The action plan, published today, includes 16 commitments to further improve care and has been developed in partnership with NHS England and NHS Improvement, the National Institute for Health and Care Excellence, Health Education England, Genomics England, the National Institute for Health Research, NHS Digital and the Medical Research Council.

Drawing on the UK’s strengths as a global leader in science, the Action Plan includes commitments on research, including an announcement of £40 million of new funding to the National Institute for Health Research (NIHR) BioResource, to further their work in characterising and understanding rare diseases.

The Action Plan will also help increase the ability to spot genetic conditions during the screening of newborn babies.

Health and Social Care Secretary Sajid Javid said:

“This action plan will speed up diagnoses and care and allow our fantastic workforce to better support patients, by drawing upon the UK’s world-leading science and technology.

“I am committed to levelling up our health system so that everyone regardless of their condition can receive treatment that is tailored to their needs.”

Actions include:

• Improvements to newborn screening so diagnoses can be made earlier, including a new research pilot using whole genome sequencing to screen for rare genetic conditions in healthy newborns, and improvements to the way the UK National Screening Committee makes decisions on rare diseases
• A new digital tool called ‘GeNotes’, which will allow healthcare professionals to quickly access information on rare diseases to improve diagnosis so they can provide the right care for their patients
• Developing a toolkit for virtual consultations to increase the effectiveness of videoconference and telephone clinic calls, making it easier for patients to coordinate care between multiple specialists without the need to travel long distances
• Supporting access to new treatments through new programmes like the Innovative Medicines Fund, while continuing to work with NICE on new treatments being assessed.
• Monitoring uptake of drugs for patients with rare diseases to, by measuring the number of people accessing a drug and comparing with the number expected to access it, to ensure equal access to treatment across the country
• Pilot new approaches to care for patients with undiagnosed rare conditions. Following consultation with rare disease patients and their families, these pilots are currently under design, but examples could include a holistic one-stop paediatric clinic or a more targeted adult neurology clinic, or the use of virtual expert multidisciplinary teams.

The government will also continue investing in the development of nucleic acid therapies, for example, through the world-class Gene Therapy Innovation Hubs and the Nucleic Acid Therapy Accelerator.

Minister for Patient Safety and Primary Care, Maria Caulfield said:

“People with rare diseases deserve the best care and treatment. Marking Rare Disease Day 2022 by publishing England’s first Rare Diseases Action Plan is a significant step in supporting people with rare diseases to access even better coordinated care and treatment.

“We have listened carefully to people living with rare diseases to make sure their needs and priorities are placed at the heart of this plan. We will continue to work closely with the rare disease community over the coming year to develop this even further.”

Prof. Lucy Chappell, Chief Executive of the National Institute for Health Research said:

"Around one in 17 people will develop a rare disease at some point in their lives, so while they are individually rare, cumulatively these diseases affect a substantial proportion of the population. The impacts on these individuals and their families are wide-ranging. Our research needs to continue to address early diagnosis, effective treatments and supporting them to live well with their conditions.  

“The work of the NIHR's BioResource has already helped produce some truly ground-breaking discoveries, such as those made through the 100,000 Genomes Project, and today's significant new investment will ensure it remains at the cutting edge of the fight to understand rare diseases, and help the people who have them." 

Nick Meade, Director of Policy of Genetic Alliance UK said:

“Rare Disease Day is great timing for this step forward. The delivery of this plan despite the challenges of the current environment shows the commitment of the delivery partners to make meaningful progress.

“Our community’s voice has been heard more than ever in the development of this plan. This collaboration has helped us see how well these priorities of diagnosis, awareness, coordination and care can combine to have an impact greater than the sum of their parts.  We are excited to move into the implementation phase and to see real improvements for people living with rare conditions.”

Professor Dame Sue Hill, Chief Scientific Officer for England, said:

“With genetics playing a role in over 80% of all rare diseases, genomics can be vital in delivering faster and more accurate diagnoses, as well as more effective treatments. The NHS Genomic Medicine Service is therefore key to helping more patients get the right treatment quicker and supporting this new action plan.

“The NHS already tests for more than 360 rare and inherited signs of illness covering around 3,200 rare diseases and 203 cancers though our National Genomic Test Directory, and despite the pandemic, has continued to secure new, innovative and life-changing medicines to help people with rare and genetic conditions, including one-shot gene therapies, transforming their lives.”

 This follows the UK Rare Diseases Framework announced last year which set out priorities for all four nations to speed up diagnosis, raise awareness and improve treatment and care.

The devolved administrations will publish their own action plans by the end of 2022.

NOTES TO EDITORS

The full list of actions set out in the plan are:

1. Improve how decisions are made on newborn screening for rare diseases
2. Design an ethically approved research pilot using whole genome sequencing to screen for genetic conditions in healthy newborns
3. Continuously develop the National Genomic Test Directory, including rollout of whole genome sequencing (WGS) that will play an important role in diagnosis of rare diseases. 
4. Further develop the Genomics England clinical research interface. Increase the number of diagnoses from genome data, and provide evidence to support the NHS Genomic Medicine Service in developing its diagnostic Test Directory. 
5. Pilot new approaches to care for patients with undiagnosed rare conditions. Following consultation with rare disease patients and their families, these pilots are currently under design, but examples could include a holistic one-stop paediatric clinic or a more targeted adult neurology clinic, or the use of virtual expert multidisciplinary teams
6. Develop an innovative digital educational resource (‘GeNotes’). Providing healthcare professionals with relevant and concise information to support patient management, linking to the NHS Genomic Test Directories, and signposting to extended learning opportunities. 
7. Determine how best to include rare diseases in UK health professional education and training frameworks. To ensure rare disease competencies and learning outcomes are embedded in NHS education and training frameworks across all relevant specialities including general practice training and those involved with emergency care.
8. Extend the remit of the Genomics Education Programme to include non-genetic rare diseases 
9. Publish high-quality epidemiological and research papers to increase the understanding of rare diseases including papers looking at basic rare disease epidemiology, impact of COVID-19 on people with some rare diseases and cancer-related risk factors or outcomes for people with some rare diseases. 
10. Develop a toolkit for virtual consultations improving use of videoconference and telephone clinic calls in services for patients with complex, multi-system rare diseases.
11. Support rapid access to drugs for patients with rare diseases in the NHS. Assessing the complexity of the service in which the drugs will be used, by mapping available access initiatives, identifying drugs and delivery challenges through horizon scanning, and listing drugs that have been identified for access.
12. Develop a strategic approach for gene therapies and advanced therapy medicinal products (ATMPs) based on horizon scanning by NHSE/I. 
13. Capitalise on the changes made to NICE’s methods and processes to ensure that NICE continues to support the rapid adoption of effective new treatments for NHS patients with rare diseases. Implementing NICE’s new methods and processes to support access to new treatments for rare disease patients.
14. Monitor overall uptake of drugs for patients with rare diseases and map geographical access to those drugs by developing analytical approaches
15. Map the rare disease research landscape to identify gaps and priorities for future funding
16. Reduce Health Inequalities in NHS Highly Specialised Services (HSS) including considering health inequalities at HSS annual clinical meetings, in service development and commissioning decisions, and in provider selection processes. 

Below is an additional quote from a stakeholder on today’s action plan.

Paul Catchpole, Director of Value and Access at the Association of the British Pharmaceutical Industry said:   

"Today’s Action Plan for England contains welcome commitments to ensure that people with rare diseases get the fast diagnosis, better care and timely access to treatments they desperately need. Without that timely diagnosis, people can miss the window of opportunity for receiving available treatments. 

“Nearly 40% of the medicines now in development are for rare or very rare conditions, including many cell and gene therapies, so we very much welcome the commitments to help people get rapid access to them.

We would urge all Action Plan delivery partners to work together, with industry, to make these plans a reality.”  

Below are quotes from individuals with lived experience of rare diseases. They are happy to be approached by the press for comment.

Kerry Leeson-Beevers, Chief Executive, Alström Syndrome UK

“I live in Rotherham, South Yorkshire. My son, Kion, is diagnosed with an ultra-rare and complex genetic condition called Alström Syndrome. Kion is 20 years old, he is Deafblind and has a range of complex symptoms relating to his condition. Despite the challenges he experiences, he is a very independent young man and he lives life to the full. I am incredibly proud of him. 

“All the priorities highlighted in the framework are very important. While I am particularly keen to see improvements in coordination of care to support Kion to navigate the system now that he is more independent and making his own decisions, Kion would say that raising awareness amongst healthcare professionals is the main priority. He has always felt very frustrated about having to tell his story over and over again and worries when healthcare professionals do not understand his condition or how it affects him. We can’t expect every professional to understand all the 7,000+ rare conditions; however, we would like them to develop a general understanding and to ‘think rare’. Therefore, it is very encouraging to see the specific actions in England’s Action Plan looking to address how best to include rare disease education and training for healthcare professionals.”

Phillippa Farrant, Development Officer at the Duchenne Family Support Group

“My son Dan passed away in 2019 from Duchenne Muscular Dystrophy, a rare muscle-wasting disease which is life-limiting. He was 27 when he passed away, and diagnosed at 8 months old. We were told he would have a life expectancy of 13. The condition means that boys' muscles weaken from a young age. They are usually wheelchair bound by the age of 10 or 11 and in an electric wheelchair by mid-teens, needing ventilation, catheters and some need PEG feeding as they get older.

“As one of the patient representatives on the delivery group for the England Rare Diseases Action Plan, I was able to represent the rare disease community with personal lived experience of a rare disease. I am hopeful that the action plan will finally implement change in the future, not just for the Duchenne community but across all rare diseases. The patient's voice has been listened to and this is so important, as we have the lived experience of the conditions and what is needed in an ideal world. The priorities should address the major gaps in provision for rare diseases and over time I am hopeful that there will be change. I am looking forward to continuing working on this with the various regulators and policy makers to make sure this happens.”