Peter Dowd

The UK Rare Diseases Framework sets a high-level strategy to focus action across the healthcare system to address the four priorities of: helping patients get a final diagnosis faster; increasing awareness of rare diseases among healthcare professionals; better coordination of care; and improving access to specialist care, treatments, and drugs. Integrated care boards (ICBs) are responsible for commissioning some specialised healthcare services, which help treat patients with rare diseases, whereas others are commissioned centrally by NHS England. For those specialised services commissioned by ICBs, the ICBs must commission the services in line with service specifications and standards published by NHS England. NHS England remains accountable for the effective arrangement of those specialised services.

A rare disease is defined as a disease or condition which affects fewer than one in 2,000 people within the general population. While they are individually rare, they are collectively common, and one in 17 people will be affected by a rare disease at some point in their lives.

Improving the lives of people living with rare conditions continues to be a health priority. The UK Rare Diseases Framework sets out four priorities, collaboratively developed with the rare disease community, which are: helping patients get a final diagnosis faster; increasing awareness of rare diseases among healthcare professionals; better coordination of care; and improving access to specialist care, treatments, and drugs. We remain committed to delivering under the framework and will publish an annual England Action Plan in 2025, which will report on progress.

The annual England Action Plan sets out specific, measurable actions for the next year under the framework's four priority areas. To ensure delivery and accountability, each action lists an owner, the desired outcomes, and how we will measure and report on progress. We have also committed to commissioning a portfolio level evaluation of England’s Rare Diseases Action Plans to measure progress for people living with rare conditions. This evaluation is now underway, and we look forward to updating on next steps in 2025.

Improving the lives of people living with rare and ultra-rare conditions, such as rare blood disorders, continues to be a health priority. We remain committed to the UK Rare Diseases Framework, which highlights four priorities to improve the lives of people with rare diseases, including better coordination of care, and improved access to specialist care, treatment, and drugs.

We’re working hard to provide the best possible care to those living with rare blood disorders, such as sickle cell disease and thalassaemia. NHS England’s priorities for the improvement of care for rare blood disorders includes an established programme of work to improve clinical pathways and care for people with sickle cell disease, which has recently been expanded to include thalassaemia. We are also boosting Ro subtype blood donation numbers and delivering world-leading treatments, such as the new blood matching genetic test which will reduce the risk of side effects and offer more personalised care.

NHS England commissions services for patients with Thrombotic Thrombocytopenia Purpura across 11 hospitals. This is an aggressive blood clotting disease which is difficult to diagnose and has a high mortality rate if left untreated. In the acute phase of the disease patients need rapid access to specialist care. This is a lifelong condition, and patients receive ongoing monitoring by the multidisciplinary team, shared care with local hospitals, and access to specialist drugs.

The National Health Service is reviewing and updating the service specification for haemophilia care through the Blood Disorders Clinical Reference Group, alongside a new quality dashboard that will enable commissioners to monitor the quality of the services in their areas, benchmarked against other services across the country.

The UK Rare Diseases Framework sets out four priorities to improve the lives of people living with rare diseases, such as Paroxysmal Nocturnal Haemoglobinuria (PNH). This includes the priority of improving co-ordination of care.

NHS England commissions services for patients with PNH from two centres, the Leeds Teaching Hospitals NHS Trust and the King's College Hospital NHS Foundation Trust. These two services work collaboratively to provide specialist care and care coordination to patients with PNH in England. This involves specialist diagnosis, multidisciplinary team care, shared care with local hospitals, and access to specialist drugs. The centres also provide outreach clinics. The service is recognised as an exemplar and has reduced mortality and improved outcomes for patients.

We remain committed to the UK Rare Diseases Framework, which highlights better coordination of care as a priority to improve the lives of people with rare diseases.

Under England’s Rare Diseases Action Plans, we have committed to a range of measures to improve coordination of care. Last year, the National Institute for Health and Care Excellence published an updated quality standard on transition from paediatric to adult care, to support better co-ordination of care. NHS England continues to review and approve applications for new rare disease collaborative networks (RDCNs) across a range of specialties and disease groups. The RDCNs are an important part of NHS England’s provision to improve care and support patients with rare diseases. They are made up of groups of providers who have an interest in developing an understanding of a particular rare disease, and who are committed to working together to progress research, increase knowledge, and improve patient experience.

NHS England committed to include the definition of coordination of care in all new and revised services specifications for patients with rare diseases, and to ensure the priorities of the UK Rare Diseases Framework are embedded across highly specialised services. All highly specialised centres are required to work collaboratively with other providers in the service and to have shared care arrangements in place with local hospitals, as required.

NHS England is implementing networked models of care for patients with rare diseases, ensuring that specialist expertise is always available whilst allowing patients to be treated and cared for as close to home as possible. In addition, NHS England has committed to measuring the geographic spread of patients accessing highly specialised services to ensure that all patients have access to the services, and are not disadvantaged. A toolkit for virtual consultations was developed in 2023, and made available to all trust chief executives and highly specialised services clinical leads, to help people with complex, multi-system rare diseases access multiple specialists without needing to travel.