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 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.
Cystic Renal Disease Project
This project covers the Cystic Renal Disease (CRD) pathway within Midwifery and Nursing across the East Of England. It is to enable nurses and midwives to deliver a quality assured genomics service, supporting the Genomic Medicine Service ambition of increasing appropriate genomic testing / treatment for all patients and families who might benefit.
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.
Familial Hypercholesterolemia (FH)
Developing testing pathways, a case finding approach and supporting education, training in Primary Care.
Feto Maternal Genomics Pathways
We are collecting information on genomic testing for unborn babies. Our project covers the East of England and East Midlands and we are focussing on the delivery of R21 – or prenatal rapid exome sequencing.
Generation Study
The East GMSA will be collaborating with Genomics England in delivering the ‘Generation Study’, formerly known as the Newborn Genomes Programme.
Genomics Pathology Accelerator Programme (GPAP)
Supporting histopathology labs within the our region to map, audit and improve the tissue pathways for priority solid tumours.
Lynch Syndrome
This project aims improve the early detection of cancer, and access to personalised care for people with Lynch syndrome.
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.
NICU / PICU
Embedding paediatric genomic practitioners in neonatal and paediatric intensive care and paediatric neurology.
Ophthalmology
Embedding a nurse-led model of genetics consenting within Ophthalmology services at Nottingham University Hospitals NHS Trust.
PhenoTips
A cloud-hosted centralised database for genomic information, enabling access and collaboration between our region's Trusts.
QGenome
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.
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.
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.
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.