East Genomics

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NHS GMSA Transformation Projects

The NHS GMSA transformation projects align with national priorities such as the NHS Long Term Plan.

They lay the foundations for services that could be rolled out nationally 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 support better outcomes for patients.

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.

People forming the shape of two kidneys

Cystic Renal Disease Project

The Cystic Renal Disease (CRD) project was one of the seven patient pathways of the National Nursing and Midwifery Genomics Transformation programme. The CRD pathway work was led by the East GMSA Nursing and Midwifery team.

DNA helix represented by pills and medicines

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.

Picture of someone having blood taken from their own by a healthcare professional

Familial Hypercholesterolemia (FH)

Developing testing pathways, a case finding approach and supporting education and training in Primary Care.

Ultrasound scan of a baby

Feto Maternal Genomics Pathways

Our project focussed on the delivery of the R21 test – or prenatal rapid exome sequencing. The project was completed in November 2023 and covered the East of England and East Midlands.

Newborn baby and mother

Generation Study

The East GMSA will be collaborating with Genomics England in delivering the ‘Generation Study’, formerly known as the Newborn Genomes Programme.

DNA sequence image

Genomics Pathology Accelerator Programme (GPAP)

Supporting histopathology labs within the our region to map, audit and improve the tissue pathways for priority solid tumours.

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.

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.

Picture of baby holding a hand


Embedding paediatric genomic practitioners in neonatal and paediatric intensive care and paediatric neurology.



Embedding a nurse-led model of genetics consenting within Ophthalmology services at Nottingham University Hospitals NHS Trust.



A cloud-hosted centralised database for genomic information, enabling access and collaboration between our region's Trusts.

QGenome app


Led by the South East GMSA with tech development by UBQO, QGenome aims to facilitate genomic testing of common conditions and rare diseases through an app-based clinical decision aid.

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.

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.

Play Domino Talk Prostate event in Nottingham, December 2022

United Against Prostate Cancer

This project aims to improve the prostate cancer pathway and support available for patients. It will tackle disparities and provide equitable access to prostate services.

Biliary Tract Cancer management

Integrating genomic testing into Biliary Tract Cancer management (BTC) pathway

This project aims to steer uptake of genomic testing, monitoring and driving targeted chemotherapy informed by genomic testing in the Biliary Tract Cancer management (BTC) pathway at Nottingham University Hospitals (NUH) NHS Trust.