Transformation Projects

The Genomic Medicine Service, delivered by seven Genomic Medicine Service Alliances and seven Genomic Laboratory Hubs, aims to bring genomics into routine NHS care. As part of this, a programme of national and regional projects has been developed.

National projects

Led by the North East and Yorkshire Genomic Medicine Service Alliance, this project aims to enable nurse leaders to drive forwards the integration of genomics into clinical practice for nurses and midwives. This project includes a Project Delivery Team, working with all seven GMSAs to support the mainstreaming of genomics and develop a framework to underpin transformation projects in identified clinical pathways.

Led by the Central and South Genomic Medicine Service Alliance, this project aims to embed Familial Hypercholesterolemia into primary care. The project aims to support primary care teams to increase the detection of FH in the community, support education and training for GPs and other primary care health care professionals, and identify new and effective strategies for identifying new FH cases in the community.

Led jointly by the North Thames and South East Genomic Medicine Service Alliances, this project aims to deliver a comprehensive service for the detection of Lynch syndrome.

With the introduction of Lynch syndrome testing in the National Genomic Test Directory, all Genomic Laboratory Hubs are expected to provide access to these tests. This project aims to build on GLH work to align pathways and processes, ensuring equity of access and standardisation across England.

Led by the North West Genomic Medicine Service Alliance, this project aims to optimise and improve the clinical effectiveness of DPYD gene testing for some patients with cancer. The project aims to standardise the implementation of DPYD testing across the country, as well as establishing a clinical registry to characterise relevant DPYD variants.

Led by the South West Genomic Medicine Service Alliance, this project aims to improve the identification and treatment of monogenic diabetes. The project aims to reduce unwarranted variation in monogenic diabetes so that rates of case identification across England meet the estimated prevalence of 8 confirmed cases per 100,000 population. This will largely be achieved by supporting trusts to each have a trained medical and nursing lead for monogenic diabetes.

Led by the North Thames Genomic Medicine Service Alliance, this project will see GMSAs working with laboratories to support rapid cancer genomic diagnostics. It aims to improve the pathway for preparing and sending cancer samples to Genomic Laboratory Hubs, as well as improving access and turnaround times.

Led jointly by the East and South East Genomic Medicine Service Alliances, this project aims to support the national British Heart Foundation (BHF) pilot scheme being carried out by linking directly into the broader infrastructure of the Inherited Cardiovascular Conditions units.

Central and South regional projects

  • South Asian Exome panel
  • Mendlescan
  • Geneseize
  • Breast cancer
  • Calculating familial cancer risks

More information on the Central and South regional projects will be available soon.