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East Genomics

National NHS GMSA Transformation Projects

Transformation projects are helping to embed genomics in routine care by assessing the impact genomic testing has on different clinical services and how it could lead to better outcomes for patients. They align with national priorities such as the NHS Long Term Plan commitments and were identified by the majority of the NHS GMS Alliances as areas of importance. They lay the foundations for services that could be rolled out nationally, subject to a review of evidence, to improve patient care and ensure equity of access. They also raise awareness of genomics with healthcare professionals, boost confidence in using genomic testing and ultimately supporting better outcomes for patients.

DNA made up of medicine and pills

PROGRESS Programme - Pharmacogenomics Roll Out and gauging response to service

The PROGRESS Programme will investigate areas of pharmacogenetic delivery with a view to providing valuable insight to an approach that can be adopted across the NHS in England.

DNA sequence image

Genomic Pathology Accelerator Programme

This project aims to analyse and improve the ways in which tumour samples for solid cancers are processed and used for diagnosis to optimise turnaround times and ensure a high-quality process across the NHS Genomic Medicine Service.

Circulating DNA diagram

Circulating Tumour DNA (ctDNA)

This project aims to provide evidence, including the health economics, for the expansion of ctDNA testing in the NHS to support early diagnosis of cancer.

Anita Murphy

Nursing and Midwifery

This project aims to support nurses and midwives to drive the strategic and systematic integration of genomics across nursing and midwifery practice in the NHS in England.

Image of DNA double helix

Lynch Syndrome

This project aims improve the early detection of cancer, and access to personalised care for people with Lynch syndrome.

Heart in front of DNA strands

Sudden Cardiac Death (SCD)

This project aims to develop an integrated pathway that enables all families affected with SCD to access genomic testing on stored tissues and DNA when SCD is suspected.

Image of scientist in a genomic testing lab

DPYD Testing

This project aims to ensure that DPYD testing is equitable, standardised and optimised across England and to ensure the testing itself is clinically effective by looking for other potential variants.

Quote from patient with monogenic diabetes

Monogenic Diabetes

This project aims to reduce variation in the diagnosis of monogenic diabetes to ensure the expected 8 in 100,000 case are identified.

Works and investment aid high volume throughput

RNA Sequencing and Long-read DNA Sequencing

The overall aim of this collaborative project is to pave the way for the implementation of RNA-based and long-read DNA sequencing diagnostic services in the NHS.