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Millions to benefit from launch of England’s first Rare Diseases Action Plan

Published: 28 February 2022

Millions of people with rare diseases will benefit from faster diagnosis and new treatments after today's launch of England’s first Rare Diseases Action Plan by Health and Social Care Secretary Sajid Javid, with new commitments on research and additional funding for the NIHR BioResource.

Drawing on the UK’s strengths as a global leader in science, the Action Plan includes £40 million of new funding to the NIHR BioResource, to further their work in characterising and understanding rare diseases.

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 NIHR, NHS Digital and the Medical Research Council.

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.”

The NIHR BioResource helps researchers to identify genetic causes of rare diseases, to improve diagnosis and to support work to develop and validate treatments. To date, the NIHR BioResource has recruited over 21,000 patients and family members across more than 60 rare disease areas.

Their support has facilitated some key research discoveries for rare diseases, including for the Next Generation Children study, which revealed that whole-genome sequencing has the potential to be a first-line diagnostic tool for some intensively ill children.

Professor Lucy Chappell, Chief Executive of the NIHR 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 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."

Chief Investigator at the NIHR BioResource, Professor John Bradley, said: “The NIHR BioResource is delighted to be part of the Rare Diseases Action Plan. Working with over 21,000 people affected by rare diseases, we are advancing the diagnosis and management of patients. This new funding will allow us to accelerate these advances and improve their lives.”

Actions in the Rare Diseases Action Plan 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.

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.

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