Genomic Medicine Service

A new nationally commissioned NHS Genomic Medicine Service was launched this year, building on the NHS contribution to the 100,000 Genomes Project and making the NHS the first healthcare system in the world to systematically introduce Whole Genome Sequencing (WGS) into healthcare. This new service is underpinned by seven Genomic Laboratory Hubs (GLHs) delivering the new National Genomic Test Directory across the country.

Key Aims:

Cutting-edge genomic technologies

to predict and diagnose disease, and to personalise treatment.

single national testing directory

detailing tests that are available for children and adults with suspected genetic disorders.

National database

that will inform academic and industry research

The laboratory provider for this region is the South East GLH, which is a consortium led by Guy’s and St Thomas’ NHS Foundation Trust. Plans are currently being developed with organisations across the region and Whole Genome Sequencing is expected to be operational by April 2020. We are currently transitioning to this new phase and will keep you updated with our progress as plans and timescales are confirmed.

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.