Question to the Department of Health and Social Care:

To ask His Majesty's Government, further to the England Rare Diseases Action Plan 2022, published on 28 February, what progress has been made in testing new approaches to diagnosing individuals with rare diseases.

In England, the NHS Genomic Medicine Service is provided by a national genomic testing network of seven NHS Genomic Laboratory Hubs. The Hubs deliver testing as directed by the National Genomic Test Directory, which outlines genomic testing offered by the National Health Service, including tests for 3,200 rare diseases and over 200 cancers. The Test Directory is regularly updated to reflect the latest scientific and technological developments, including new clinical indications for rare disease.

NHS England is developing a proposal for a ‘syndrome without a name’ pilot, which aims to reduce the time to diagnosis for patients with undiagnosed rare diseases. Genomics England and the NHS will deliver a study to explore the effectiveness of using whole genome sequencing to find and treat rare genetic diseases in newborn babies. Genomics England has engaged with parents, the public, people with lived experience of rare disease, researchers and healthcare professionals on the practical, ethical and societal issues raised by the study and how it can be delivered. The study will commence in 2023 and will sequence the genomes of 100,000 babies and will gather evidence to consider whether this technology could be deployed in England in the future.