England launches rare disease action plan
England has launched a Rare Diseases Action Plan in a widespread effort to support faster diagnosis and understanding of rare diseases.
The plan was launched by Health and Social Care Secretary Sajid Javid 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.
The plan includes 16 commitments to improve care for people living with or who have an undiagnosed rare disease.
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.”
It’s thought that there are around 3.5 million people living with a rare disease in the UK. The nature of the diseases often mean it is difficult for healthcare professionals to receive training on every condition or for patients to access the relevant specialist.
For instance, 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 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 its work in characterising and understanding rare diseases.
Another part of the plan also aims to increase the ability to spot genetic conditions during the screening of newborn babies so diagnoses can be made earlier. This includes 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.
Other actions include:
- 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.
Professor 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.”