UK Strategy for Rare Diseases progress report released

Report tracks progress made against 51 commitments in UK Strategy for Rare Diseases, and highlights work of the Genomics Education Programme

Today, the government has released its second biennial progress report from the UK Rare Diseases Policy Board, just over four years since it published the UK Strategy for Rare Diseases in November 2013. The strategy informs the efforts by all four health departments in the UK to recognise and respond to the needs of those affected by rare diseases.

A rare disease is one that affects fewer than 5 in 10,000 people (EU definition). There are around 8,000 known rare diseases, and the vast majority (>80%) arise because of changes in a person’s genetic information. Collectively, rare diseases affect 1 in 17 – or 3.5 million – people in the UK (Rare Disease UK).

Since 2013, much has been achieved in implementing various elements of the strategy. This report highlights achievements across the four nations since 2016, when the first progress report was published. It includes a table of progress, measured against the 51 commitments that were made in the original strategy document.

Future focused

The report discusses UK-wide opportunities and challenges in the rare diseases landscape up to 2020. It notes the continuing success of the 100,000 Genomes Project, and its contribution to addressing an unmet diagnostic need. “A lack of diagnosis often leads patients with a rare disease finding themselves on a ‘Diagnostic Odyssey’ involving serial referrals to several specialists and many different, often invasive, tests… The 100,000 Genomes Project is helping to drive advances in genomic medicine and is already providing diagnoses to patients with a rare disease.”

The report also highlights the work of the HEE Genomics Education Programme to drive “the development of a genomics-literate workforce”, and that the programme continues “to support the improvement of services for patients with a rare disease, and the preparation of the NHS workforce for mainstreaming personalised care”.

Delivery and implementation

Co-chaired by Professor Gina Radford, deputy Chief Medical Officer in England, and Alastair Kent OBE, the UK Rare Disease Policy Board is a UK-wide advisory body charged with providing oversight of the delivery of the 51 commitments set out in the strategy.

NHS England and the Department of Health and Social Care recently published their implementation plans for meeting these commitments. For more information about the UK Strategy for Rare Diseases, visit the website.