Previously, funding for the treatment of rare diseases was kept separate, but it now falls within the overall NHS England budget for specialised services at a time when there are acute financial pressures on the system and a need to save money.
Whilst each specific disease may be rare, the total number of patients with rare diseases in the UK is well in excess of three million, so rare diseases remain a significant health issue; most, though not all, have a strong genetic component. Moreover, the number of patients is likely to rise as new genome sequencing capacity increases the ability of doctors to recognise and diagnose rare and ultra-rare conditions. At the same time, new therapeutics continue to emerge, but these ‘orphan’ drugs or therapies (with a limited market size) are typically very expensive.
The MPs of the Parliamentary Group are calling for a dedicated fund for rare disease treatments ahead of a UK strategy for rare diseases, due to be published in the next few months. They are also concerned that access to new treatments will take too long, and want a special rapid system for regulatory review of orphan drugs. As so few people are affected by each rare disease, it is not possible to generate the level of evidence needed to support approval of normal new therapeutics, necessitating amended regulatory processes.
Speed is an important factor for affected families; Rare Disease UK says that at present 30% of children with rare diseases die by their fifth birthday. The National Institute for Clinical and Health Excellence (NICE) has said it will develop a suitable process in consultation with stakeholders.
Meanwhile Rare Disease UK is campaigning for the new strategy to ensure ‘equitable access to effective services’ for all patients and families, saying that it must cover a range of key issues including prevention, diagnosis and screening; treatment; care and support; and planning and commissioning of services.