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Genomic Medicine Specialist

2 months ago


Sheffield, Sheffield, United Kingdom Sheffield Teaching Hospitals NHS Foundation Trust Full time
Job Overview

This is a newly established role which ensures that babies and their families who receive a 'suspected condition' result from the research study have a smooth handover to the NHS for confirmatory testing and, if required, to the relevant care and support pathway.

Main Responsibilities
  • Receive 'condition suspected' genomic research reports covering all recruitment sites in the region from the Genomics England Case Manager and confirm receipt.
  • Inform the NEY GLH rare disease laboratory of positive screening results and support the relevant clinical team to acquire the appropriate samples that will be required for the genomic and other confirmatory testing.
  • Share and track 'condition suspected' genomic research reports with the relevant NHS Specialist Care Centre and request an email receipt.
  • Confirm to the Genomics England Case Manager that cases have been confirmed as received by NHS Specialist Care Centres and have transferred into NHS Standard of Care pathways.
Key Requirements
  • Registered Genetic Counsellor (AHCS or HCPC), Nurse, Midwife or Health Visitor with relevant current professional registration or equivalent.
  • Masters in relevant field or, equivalent experience and willingness to work towards.
  • Proven evidence of continuing professional development.
Desirable Criteria
  • Further training or significant experience in project management, financial management or supporting change management processes.
Working for Our Organisation

The NHS has established seven Genomic Medicine Services Alliances to provide equitable and consistent access to genomic services across England. These seven GMS Alliances (each aligned with one of the GLHs) have also been created to support the systematic implementation of genomic medicine into the mainstream healthcare system and harness the power of genomics to improve the health of our population.

North East and Yorkshire Genomic Medicine Service Alliance represents the region and is hosted by three partnership Trusts: Leeds Teaching Hospitals NHS Trust, Sheffield Teaching Hospitals NHS Trust and Newcastle NHS Foundation Trust.

The Alliance builds on the world leading work of the 100,000 Genomes Project which was the first in the world to use whole genome sequencing in clinical service on a large scale and the Genomic Medicine Centres which delivered this project.

The prime purpose of the Alliance is to provide equitable and consistent access to services, specifically regional working across the North East and Yorkshire (NEY) area of England geography.

Job Description and Person Specification

Please view the attached Job Description and Person Specification documents for full details regarding this post.

Please ensure that you clearly demonstrate how you meet the role criteria when completing your application.