Regional Transformation Projects

Transforming feto-maternal pathways

Dr Kelly Cohen, Consultant In Fetomaternal Medicine, & Clinical Director, Women’s CSU, Leeds Teaching Hospitals NHS Trust
Dr Jennifer Campbell, Consultant Clinical Geneticist, Lead Clinician and Head of Service, Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust

The aims of this transformation project are;

  • To reverse the current inequity of access to prenatal and postnatal genomic testing for fetal anomalies within the North East and Yorkshire (NEY) GMSA
  • To develop end–to-end clinical pathways both for on-going pregnancies and for pregnancy losses after fetal anomalies have been identified.
  • To create a multi-professional network of primary, secondary and tertiary care providers across the NEY region to embed genomics in to maternity care and deliver culturally competent services to diverse populations, including those families with an increased chance of a genetic diagnosis
  • Contributing to the transformation projects in nursing, midwifery and medicine

Mapping end-to-end care pathways and improving cross-specialty care co-ordination of specified rare diseases: a novel primary-care based service led by GPs with additional expertise in Genomic Medicine

Dr Jude Hayward, RCGP Joint Clinical Champion in Genomic Medicine Primary Care
Dr Will Evans, GP, academic and clinical lead at Mendelian

The aims of this project are to improve care co-ordination for patients with specific rare diseases of underlying genetic aetiology across the entire clinical pathway, and establish a novel service delivery model for a GP with additional expertise in genomic medicine to support on-going care co-ordination across the care pathway and within primary care.

Scoping and Planning for Region-wide Electronic Ordering of Genomic Tests

John Fraser, Data and Informatics Director, NEY GLH

The purpose of the project is to engage with all relevant regional stakeholders required for implementing fully electronic genomic pathways, and to agree priorities, a high level design, and a costed business case and plan for implementation.

RNA-Seq to enhance genomic diagnostics

Dr Brian Wilson, Consultant Clinical Geneticist, Northern Genetics Service, The Newcastle upon Tyne NHS Foundation Trust

This project aims to evaluate the clinical utility of RNA-Seq to improve the diagnostic rate in rare disease patients in a limited number of clinical scenarios across the NEY region, with a view to adoption as standard practice if efficacy is proven.

National Genomic Test Directory

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

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