The national Whole Genome Sequencing (WGS) service is now available for patients that meet the eligibility for clinical indications in rare disease 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 links below give more information on the required process and documentation and the support available for submitting cases for testing.

Changes to eligibility criteria for solid cancer whole genome sequencing

The current delivery and utility of whole genome sequencing (WGS) in solid cancer has recently been assessed by the NHS England Genomics Unit Senior Management Team. This concluded that WGS in solid tumours should only be available for the most clinically relevant population, as follows:

From 4th December 2024, for solid tumours, access to WGS will be retained for all paediatric/TYA (age range <25 years) WGS Test Directory indications, and for all CNS/brain tumours (all ages). But for all other adult solid tumour WGS Test Directory indications, WGS will only be available where there is a clear, clinical question and where results have expected utility/impact. This includes exhausted standard of care from either a clinical or diagnostic perspective.

Theses changes are also summarised in the explanatory note tab of the October 2024 (v10) edition of the National Genomic Cancer Test Directory

NHS England GMS Test Order Forms

NHS England GMS Record of Discussion Form

Revised Eligibility Criteria (04.12.2024)

Sample Requirements

Guidance for Solid Tumour Test Order Process

Further support information can be found at Health Education England Genomics Education Programme

About the National Genomic Research Library (NGRL)

Resources and guides

Guide to Requesting WGS: Cancer