Whole Genome Sequencing

Genomic Laboratory Hub Services

A national Whole Genome Sequencing (WGS) service is scheduled to go live in Autumn 2020.

This will allow access to WGS for patients with a range of clinical indications in rare disease, specialised services and cancer. Full details can be found on the relevant National Test Directory.

If you wish to access the Whole Genome Sequencing service for your patients the following pages give more information on the pathway, required documentation and the support available for the return of genomic results. Online resources are available and can be found through the Whole Genome Sequencing Documentation page of this website.

Whole Genome Sequencing service process Documentation

A set of standardised national documentation is available to support the WGS service
Whole Genome Sequencing Order Forms
Whole Genome Sequencing Eligibility Criteria

“This partnership is fantastic for the people of this region, helping both children and adults. The region has strong genomics expertise and by working together we can usher in a new era of healthcare.”

Jeff Perring
Medical Director at Sheffield Children’s Hospital

There is a well-defined national process to ensure that patients are fully informed of the implications of the WGS testing.

  • Aim to set clear & informed choice about genomic testing
  • Supported by information on choices and consequences
  • Record of Discussion forms to capture evidence of consent
  • Opportunity to add clear consent to enable data to be used in research
  • Must be present for testing to go ahead
  • Further support information can be found at Health Education England Genomics Education Programme

Genomic Multi-Disciplinary Team Meetings

In order to support the interpretation of genomic data and its integration within the clinical Multi-Disciplinary Team process a series of genomic advisory boards have been established.

These are multi-disciplinary teams who analyse the more complex genomic results which arise from testing for larger numbers of gene abnormalities.

GMT Meetings

National Genomic Test Directory

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

View Directory
Genomic Laboratory Hub Services