The South West Genomic Medicine Service

The South West Genomic Medicine Service

Our world-leading and award-winning translational genomic services provide support for patients and families affected by rare genetic conditions and cancer.

We are proud to collaborate with 13 other Trusts as part of the South West Genomic Medicine Service, and we partner with Bristol Genetics Laboratory to provide genomic testing for rare diseases and cancer patients as part of the South West Genomic Laboratory Hub.

Our state-of-the-art facilities provided in partnership with the University of Exeter at the RILD building includes the Exeter Genomics Laboratory, home to the Exeter Genome service and the ground-breaking Rapid Whole Genome Sequencing Service (WGS) for acutely ill babies and children.

We offer genetic and genomic testing services for NHS and research patients, including exome, genome, and targeted next-generation sequencing. We also specialise in endocrine disorders and are a renowned provider of services for monogenic diabetes and hyperinsulinism.

Genetics and Genomics: NIHR Exeter BRC

The NIHR Exeter Biomedical Research Centre (NIHR Exeter BRC) is a partnership between the Royal Devon and the University of Exeter, working in partnership to bring benefits to research, people and health care on the South West Peninsula.

Genetics and Genomics is one of the five research themes supported by the NIOHR Exeter BRC, helping us to work in partnership to discover new genetic causes of rare and common disease. These discoveries will make a real difference to patient’s lives and, in partnership with industry, help us to identify new therapies.

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World-leading WGS service

Exeter Genomics Laboratory, based in the RILD building at the Royal Devon, is the national provider of a revolutionary genetic testing service for critically unwell children. 
Thanks to the hard work and dedication of our fantastic teams, the world-leading rapid whole genome sequencing service (WGS) is a national service that has transformed the prospects for finding a diagnosis quickly, often in less than 7 days, for critically unwell babies and children in intensive care suspected to have a rare condition.

We were delighted to work with NHS England to produce a short video about this service:

Cutting-edge equipment

A transformational system for Whole Genome Sequencing arrived at the NHS Exeter Genomics Laboratory, Research, Innovation, Learning & Development (RILD) building in 2023, the first of its kind in an NHS genomic laboratory.

The Illumina NovaSeq X Plus is a cutting-edge genetic sequencer that can look at almost all of an individual’s genetic information in a single test within 24 hours. The technology forms an integral part of our dedicated joint NHS and university research facility.

With this pioneering sequencer, we are able to deliver ground-breaking translational human genetic research, providing more diagnoses and improving clinical outcomes for NHS patients.

Watch the moment the sequencer arrived here:

Last updated: June 03, 2024.