National Transformation Projects

Led by the NE&Y GMSA the national transformation project in nursing and midwifery will enable Nurse Leaders to drive the strategic and systematic integration of genomics across nursing and midwifery practice in the NHS in England.

A framework for Nurse Leaders to underpin transformation in identified clinical pathways. The NE&Y GMSA is working within the national GMSA network to deliver a range of national programmes

Lead GMSA = North East and Yorkshire

Coordination of a national programme of work to integrate genomics into nursing and midwifery practice in the NHS in England. Using a systematic and incremental approach, a Project Delivery Team will work collaboratively with all Alliances to build their capability in leading their own genomics transformation projects using an agreed common 1framework and standardised approach. Outcomes will support mainstreaming of genomics and enable local teams to continue to transform new priority pathways as they emerge year-on-year.

1Tools, roadmap and framework developed and published by the Global Genomics Nursing Alliance (G2NA)

  • A Roadmap for Global Acceleration of Genomics Integration Across Nursing https://doi.org/10.1111/jnu.12552
  • A Maturity Matrix for Nurse Leaders to Facilitate and Benchmark Progress in Genomic Healthcare Policy, Infrastructure, Education, and Delivery https://doi.org/10.1111/jnu.12586

Optimising and improving the clinical effectiveness of DPYD gene testing for patients with cancer

Lead GMSA = North West

A national initiative to optimise and standardise the equitable implementation of DPYD pharmacogenomic testing by identifying barriers and building recommendations for multidisciplinary pathways and data collection, as an exemplar for future pharmacogenomic pathways. The project also aims to improve clinical effectiveness of DPYD pharmacogenomic testing by establishing a clinical registry, characterising additional relevant DPYD variants and optimising use of therapeutic drug monitoring.

Pathology Accelerator Programme to support rapid cancer genomic diagnostics

Lead GMSA = North Thames

This project will work with laboratories to improve the pathway for preparing and sending cancer samples to the GLH improving access and turnaround times.

Sudden cardiac death

Lead GMSA = East and South East

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.

Embedding implementation of Familial Hypercholesterolemia (FH) services in primary care

Lead GMSA = Central and South
  • Support the mainstreaming of genomic medicine for FH in primary care
  • Supporting primary care teams to increase the detection of FH in the community, in line with the NHS Long Term Plan commitment to identify 25% of the expected FH patients within 5 years
  • Drive improvement of genomic understanding and implementation of genomic test requesting in primary care through education of General Practitioners and other primary health care professionals (HCPs), and support for pathway transformation in primary care networks (PCNs), focusing on FH as an exemplar
  • Identify effective strategies for identification of new index cases of FH in the community, who have not previously been referred for genetic testing, where appropriate using medical informatics-based strategies
  • Assessing the effectiveness of remote approaches to family cascade screening in identifying affected relatives of known genetically diagnosed index cases with FH.
  • An AHSN child/parent screening clinical pilot will also be undertaken (part of ASHN lipid management and FH national programme), which will screen 30,000 children over the next 24 months, with a view to evaluating the programme to support a national roll out across the whole AHSN Network over the subsequent 12 months. This NHS GMS Alliance project should ensure alignment with this activity and its outcomes where required

Improving the identification and treatment of monogenic diabetes

Lead GMSA = South West

The aim of the project is 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.

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Delivery of a comprehensive service for the detection of Lynch syndrome

Lead GMSA = North Thames and South East

With the introduction of Lynch syndrome testing in the National Genomic Test Directory, all GLHs are expected to be providing access to this testing, in line with NICE guidance for colorectal cancers and endometrial cancers. Through the NHS GMS Alliances there is an opportunity to build on the work of the GLHs to align pathways and processes across NHS GMS Alliance regions to drive standardisation, equity of access and clinical benefit at a national level.

National Genomic Test Directory

The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.

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