Question to the Department of Health and Social Care:

To ask the Secretary of State for Health and Social Care, what steps he is taking to reduce diagnosis times for people living with rare diseases; and whether the Rare Disease Framework will include targets on earlier diagnosis.

The Government recognises the importance of all patients being able to obtain a quick and accurate diagnosis. We plan to publish a new United Kingdom Rare Diseases Framework by the end of 2020 which identifies improving diagnostic times as a key priority. Measurable targets where possible are not included in the UK Rare Diseases Framework but will be included in the subsequent nation specific action plans.

Advances in genomics and the commitment to incorporate whole genome sequencing into routine healthcare by the NHS Genomic Medicine Service are helping early detection of rare diseases. The recently published Genome UK Strategy outlines the Government’s vision to help people live longer, healthier lives using new genomic technologies to diagnose and treat rare diseases.