Rare Disease Genomic Testing: How Do We Make Access Equitable and Timely?

This episode of the Progress Educational Trust (PET) podcast discusses how we might improve access to genetic and genomic testing, and related services, for people and families affected by rare disease.

The discussion is chaired by Sarah Norcross (Director of PET), with contributions from:

⚫ Dr Sarah Wynn (Chief Executive of Unique)

⚫ Miranda Durkie (Head of Rare Disease at the North East and Yorkshire Genomic Laboratory Hub)

⚫ Professor Emma Baple (Professor of Genomic Medicine at the University of Exeter)

⚫ Dr Ellen Thomas (Chief Medical Officer at Genomics England)

⚫ Adam Clatworthy (Co-Founder of CRELD1 Warriors)

A disease that affects fewer than one in 2,000 people is generally considered 'rare'. However, such rare diseases are so common in the aggregate that they affect around one in 17 people at some point during their lives.

Four-fifths of rare diseases are known to have a basis in people's genomes, either in inherited DNA or in de novo variants (differences in DNA that owe nothing to the previous generation). For this reason, genetic and genomic testing – ideally, whole genome sequence analysis – can be crucial in establishing diagnoses, and guiding treatment, for those who are thought to have a rare disease.

In the UK, these facts have been emphasised in official documents and Government statements going back more than a decade. The Rare Diseases Strategy of 2013 committed 'all four countries of the UK' to 'making high quality diagnostic tests accessible'. The Rare Diseases Framework of 2021 identified 'helping patients get a final diagnosis faster' as the first of the UK's 'priorities for the next five years'. Those five years have almost elapsed, so where do we stand now?

Several services and resources seek to make rare disease genomic testing more accessible and useful. These include NHS England's Genomic Medicine Service and National Genomic Test Directory, the Scottish Genomic Test Directories, and guidance such as the Association for Clinical Genomic Science's Best Practice Guidelines for Variant Classification in Rare Disease and the British Society for Genetic Medicine's guidance Managing Incidental Findings.

However, challenges remain. Turnaround times for various parts of the genomic testing process – patient access to the relevant test, receipt of test results from an appropriate clinician and in an appropriate fashion, and follow-up and referral (where these are necessary) – are not always consistent, and can be overly long. This can then extend the 'diagnostic odyssey' that is too often experienced by rare disease patients and their families.

A Working Group spanning various professions and organisations has...