We welcome the Government’s focus on diagnosis in the new 10-Year Health Plan. Our Rare Care Matters report, produced in collaboration with Ipsos, shows that while a third of respondents (34%) were diagnosed within a year of symptom onset, 30% waited over five years for a diagnosis, with an average wait of 2.5 years. For these patients, faster diagnosis is essential, however as RAIRDs are predominantly non-genetic it is vital that there is a balanced investment in methods other than genomics, such as blood tests, imaging and clinicians experienced in looking after these conditions.
While the shift towards community-based care may improve access for people with common conditions, those with complex and less common conditions must not be left behind. RAIRDs require specialist knowledge and coordinated care, often only available in specialised hospital settings. Specialised networks are essential to support this but at present they lack adequate funding and support, something that needs to be considered in the implementation of the plan.
Proposals like self-referral and simplified access to appointments may work for more common conditions, but for people with RAIRDs, knowing who to refer to is not always clear. Without appropriate guidance and support, these measures could risk adding confusion rather than clarity.
Patients with rare diseases need an NHS that is inclusive, responsive, and built to meet complex needs. This is why it is disappointing that there is very limited mention of rare disease in the plan. We ask the Government to ensure that the implementation of this Plan recognises the needs of people with RAIRDs, and delivers the specialist care and support they need. A key way to deliver this is to continue the Rare Diseases Framework beyond 2026.
*We will continue to analyse the Plan and share more observations in due course.