UK rare disease strategy: the plan for implementation

Four years on from the government’s rare disease strategy, its implementation plan has been published. Here’s our summary of the key areas of focus

The Department of Health and Social Care (DHSC) and NHS England have released their plan to implement the UK Strategy for Rare Diseases.

About one in 17 people in England will develop a rare disease in their lifetimes. In total, there are 3 million people in England who will be affected by a rare disease, according to the charity Rare Disease UK. Three-quarters of rare diseases affect children.

The plan states that the DHSC and NHS England will work to fulfil the strategy through several main strands.

Ending the diagnostic odyssey

First, they aim to improve the often long and difficult process of diagnosis of a rare disease. This is often termed the ‘diagnostic odyssey’, and making this journey simpler and faster for patients and their families will in itself be positive. Moreover, quicker and more reliable diagnoses could also help patients access the best treatment sooner.

The implementation plan highlights taking forward the 100,000 Genomes Project, which aims to sequence the genomes of people who have rare diseases and their family members, as well as cancer patients. Improving the genomic data on rare diseases is hoped to lead to quicker and more accurate diagnosis.

This is particularly important for rare diseases, as about 80% of 6,000-8000 known rare diseases have a genetic component. According to the implementation plan, about one-quarter of patients who have had their genomes sequenced for the project have received their first diagnosis of a rare disease.

Strengthening research

In addition, the DHSC and NHS England plan to support the National Congenital Anomaly and Rare Disease Registration Service. This is a platform that rare-disease researchers use for clinical research and practice, and that patients and their families can also use as a source of information. The plan aims to build on and support the infrastructure to improve the UK’s ability to do research on rare diseases.

In terms of research, the implementation plan commits to strengthening research into rare diseases, particularly translational research. It aims to increase the research done through the National Institute for Health Research on rare diseases. It also highlights incentivising medicine development and marketing for treatments, as well as boosting evidence-based evaluation and testing of those treatments.

Empowering patients

The two organisations aim to share responsibilities for boosting the quality of care and treatment for people with rare diseases. One goal is improved co-ordination of patients’ treatment throughout their care. Patients will have a point of contact throughout their care to help manage appointments and provide support.

The plan also commits to empowering people who have rare diseases, by making sure patients have the understanding, skills and confidence they require. The plan aims to raise public awareness of rare diseases, provide better information for patients, and involve patients in research and policymaking.

The government’s national strategy was published in 2013, and the report for England joins implementation plans developed for Scotland, Wales and Northern Ireland.

Rare Disease UK chair Dr Jayne Spink said: “We warmly welcome the publication of implementation plans by Department of Health and Social Care and NHS England. Looking to the future we are keen to see a greater degree of collaboration across the four nations in terms of delivery and to a time when we can see their demonstrable positive impact for patients and their families.”

Please note: This article is for informational or educational purposes, and does not substitute professional medical advice.