NIHR BioResource contributes to second Rare Diseases Action Plan for England

• The 2023 England Rare Diseases Action Plan goes further than ever before to support people living with rare diseases 
• Building on progress made in the last year, it will make sure people can access specialised care, treatment, holistic support across services and can take part in research should they want to 
• The government has worked closely with the healthcare system and rare diseases community to identify 13 actions to drive further improvement 

February 28^th 2023 is Rare Disease Day, the annual focal point of the globally-coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. 

A new Rare Diseases Action Plan for England has been published today that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.

The Action Plan also includes two NIHR BioResource case studies, which we have also detailed in news stories published today:

• Our collaboration with Ring20 Research and Support UK CIO and Illumina Inc. to support identification of new cases and development of an effective diagnostic test for an ultra-rare form of epilepsy
• An interview with one family living with a rare eye condition called Leber Hereditary Optic Neuropathy (LHON) and why they're taking part in our Rare Diseases RNA Phenotyping project

Today's publication builds on the first-ever Rare Diseases Action Plan for England published in 2022 which has developed digital tools to put information on rare diseases at the fingertips of healthcare staff and helped 1,000 new complex diagnoses for people with rare diseases to be made thanks to advances in genomic research, helping to inform appropriate clinical care for patients.

The new plan lists 13 actions that have been developed with the rare diseases community focussing on faster diagnosis, increased awareness of rare diseases among healthcare staff, better coordination of care and improved access to specialist care, treatments, and drugs.   

Although rare diseases are individually rare, they are collectively common, with 1 in 17 people affected by a rare disease at some point in their lives, such as spinal muscular atrophy, haemophilia A, epidermolysis bullosa or Huntington’s disease. This new plan will increase data sharing so we can, for the first time, get a full picture of how people are tested for genetic diseases across England and help get patients a diagnosis faster.

With more than 7,000 rare diseases affecting an estimated 3.5 million people in the UK it is vital that healthcare professionals have the right training to care appropriately for their needs. The new plan will collect evidence on health inequalities faced by people living with rare diseases so they can be addressed by health services, for instance for people not living in areas where specialist centres exist.  

Health Minister Helen Whately said: 

“Rare diseases are individually rare but collectively common, affecting 3.5 million people in the UK.

“We’ve made huge progress in the last year, making 1,000 complex new diagnoses thanks to advances in genomic research.

“But there is still more to do. Our Rare Diseases Action Plan will reduce health inequalities, help people participate in research and join up specialist services better for patients”

Chief Scientific Adviser Professor Lucy Chappell said:

"The impacts of rare diseases on individuals and their families are wide-ranging. Our research plays an important underpinning role in furthering the understanding, diagnosis, treatment and care for people living with rare diseases.

“The Action Plan highlights significant advances in rare disease research supported through our funding. There is always more to do and our commitments will be supported by the recently announced funding for ground-breaking research into the NIHR Biomedical Research Centres and the Medical Research Council (MRC)-NIHR UK Rare Disease Research Platform.

“This research will continue to drive progress and foster collaboration to translate scientific breakthroughs into clinical advances.”

Professor Sir Stephen Powis, NHS England medical director, said:

“We’ve made great progress in securing new medicines for people with a range of rare conditions, including life-saving gene therapy, advancements in genomic testing and sequencing, made possible through the NHS Genomic Medicine Service, where we are a truly world-leading health system.

“As well as being an adopter of innovation today, the NHS is developing a strategic approach to prepare for the breakthroughs of tomorrow and enable rapid patient access to future tests and treatments for rare conditions.”

Dr Ellen Thomas, Deputy Chief Medical Officer at Genomics England, said:

 

“A decade on from the launch of the ground-breaking 100,000 Genomes Project, it’s vital that we continue to harness the potential of genomics to deliver benefits in diagnosis, treatment, and care for those living with rare conditions. Connecting research and clinical care and doing both at national scale is crucial to this and a great strength of the approach we are taking as a country.”

“In 2022, thanks to this link and work carried out in the National Genomic Research Library, we returned over 1,000 new, complex diagnoses for people with rare conditions to the NHS to help inform the most appropriate clinical care.

“We must continue to build on this progress, working alongside national delivery partners across the health system and in close consultation with the rare disease community, to deliver on our shared vision to improve the lives of people living with rare conditions across the UK.”

We are also making it easier for people with rare diseases to participate in research should they choose to do so and this will help improve access to specialist care, treatments, and drugs.

We will commission work to assess the effectiveness of the UK Rare Diseases Framework and England’s Rare Diseases Action Plans in making a difference to people living with rare diseases.

Clear, substantive progress has been made since the publication of the 2022 Rare Diseases Action Plan for the care and treatment of people with rare diseases. They include:

• Improvements to newborn screening for rare diseases, laying the groundwork for families to get a definitive diagnosis as early as possible. 
• 1,000 new complex diagnoses for people with rare diseases have been made thanks to advances in genomic research, helping to inform appropriate clinical care for patients;
• Creation and rollout of a toolkit for virtual healthcare consultations to help people with complex, multi-system rare diseases access multiple specialists without needing to travel. 
• The launch of the Innovative Medicines Fund (IMF) by NHS England and the National Institute for Health and Care Excellence (NICE), to fast-track the most promising, cutting-edge medicines to NHS patients.
• The pioneering MELODY Covid-19 study, which allowed people to participate from their own home and informed targeted treatment policies.

Looking to the future, the government is funding research and fostering collaborations to accelerate the understanding, diagnosis and therapy of rare diseases. These include the ground-breaking £12 million MRC-NIHR UK Rare Disease Research Platform and £790 million NIHR Biomedical Research Centres, many of which include a focus on rare disease research. 

This investment underlines the government’s commitment to securing better, in some cases transformational, outcomes including on gene therapies, which can have transformative outcomes for patients living with rare diseases such as ADA-SCID, haemophilia A or Duchenne muscular dystrophy.

This Action Plan will help improve the lives of people living with rare diseases across the country and ensure that we can deliver the best possible care to patients as we tackle the Covid backlogs.  

Louise Fish, Chief Executive of Genetic Alliance UK, said:

"The UK Rare Disease Framework set out a great set of aspirations to improve the lives of people living with rare conditions, and we welcome this second annual Action Plan setting out the practical steps that will be delivered this year.

"We are particularly pleased that National Institute for Health and Care Research funding will be awarded in Autumn 2023 to develop the evidence base needed to operationalise better coordination of care in the NHS. Many rare conditions are life-long and complex, and we know from listening to people living with rare conditions and their families that well-coordinated care makes a real difference to their quality of life.”

Kerry Leeson-Beevers, Chief Executive of Alström Syndrome UK & Breaking Down Barriers, said:

“It has been a privilege to continue working with the England Rare Disease’s Framework Delivery Group as a patient representative.

“I have been impressed with the effort the DHSC has made to engage with the rare disease community at different stages throughout the development of England’s second Action Plan. The DHSC and Breaking Down Barriers (BDB) have continued to work together to ensure the voices of people from diverse and marginalised communities who are also affected by rare conditions are included in these discussions and it was a pleasure to chair the BDB focus group.

“While there is clearly more work to be done, I welcome the progress that has been made and the new proposed Actions.

“I look forward to working with the delivery group in the year ahead to monitor these Actions and to identify areas for further development as we work towards ensuring that all people affected by rare conditions have equitable access to appropriate care and support.”

Philippa Farrant, Adult Support Coordinator, Wolfram Syndrome UK, said:

“I have been involved with the Rare Disease Framework work as a patient representative on the delivery group from when the report was first being written.

“It has been a privilege to work with all the agencies involved in putting this complex piece of work together. Seeing how we can achieve an effective and useful document going forward that not only reflects the official organisations and what they do, but takes into account the patient's views to help shape the actions has been a really worthwhile time.

“For an orphan rare disease community that I represent with less than 100 people in the country, this Action Plan should mean a better quality of life, more information and more awareness to professionals so that our community is supported better and able to access all services required managing their complex condition.”

Find out more about this year’s event and if you have a rare disease, how you can get involved by sharing your story.

At the NIHR BioResource, we are able to recruit participants to our Rare Diseases BioResource only through a referral by a clinician. However, should you need to contact the Rare Diseases BioResource, we can be reached via rarediseases@bioresource.nihr.ac.uk 

If you do not have a rare disease, you can still contribute to the NIHR BioResource. Learn about our Healthy populations cohort and how to join the NIHR BioResource as a volunteer participant.

If you are a researcher looking for more information on the rare diseases we currently support research into, or you’re with a patient group and want to discuss ways the NIHR BioResource can support your efforts, please visit our website or contact us on rarediseases@bioresource.nihr.ac.uk