Question to the Department of Health and Social Care:

To ask Her Majesty's Government what assessment they have made of the 2013 UK Strategy for Rare Diseases.

There has been no standalone assessment of the United Kingdom Strategy for Rare Diseases. However, two UK-wide reports, published by the UK Rare Diseases Forum in 2016, and the UK Rare Disease Policy Board in 2018, have assessed aspects of progress on the strategy’s key themes: empowering those affected by rare diseases, identifying and preventing rare diseases, diagnosis and early intervention, coordination of care and the role of research.

These reports highlighted progress such as the success of the 100,000 Genomes project in helping to address the lack of diagnosis for many rare disease patients, and the launch and continued development of the Genomics Education Programme by Health Education England. A copy of both the Forum and Policy Board reports is attached. These reports were followed in 2019 by the National Conversation on Rare Diseases, a survey which helped identify the major barriers and challenges faced by those living and working with rare disease, and which formed the basis of the 2021 UK Rare Diseases Framework.