England Rare Diseases Action Plan 2022 (DHSC, 28 February 2022)

Summary

To mark Rare Disease Day 2022, the Department of Health and Social Care has published England’s first Rare Diseases Action Plan.

Content

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.

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.