To support clinicians who will be requesting whole genome sequencing (WGS), the Genomics Education Programme has developed at-a-glance guides highlighting key points to cover during conversation(s) with patients, based on the statements in a nationally standardised record of discussion to capture patient’s choices. This guide is focused on WGS for rare disease indications.
The guides can be used before or during clinic appointments to aid in discussions about WGS. It is anticipated that healthcare professionals using this document will already have some familiarity with genomics, but may or may not have discussed WGS. Further information to support the guides can be found in our GMS hub.
Background
NHS England and NHS Improvement (NHSE/I) is implementing the Genomic Medicine Service (GMS) to provide consistent access to high-quality and cutting-edge genomic testing across the NHS in England. Available tests will be outlined in National Genomic Test Directory, including WGS for certain rare disease indications and cancers, commissioned by NHSE/I.
WGS in the GMS will involve a ‘Patient Choice’ process, which covers both the clinical implications of a test, as well as an offer to participate in the National Genomic Research Library (NGRL) within the clinical pathway.
Please note that the process of requesting WGS may be adapted for local needs, so make sure you have checked with your Genomics Laboratory Hub, who can assist with queries about submitting patient clinical information, family members to include, and ensuring you have the correct forms.
