Managing Genomic Test Requests in the North Thames GMS Rare & Inherited Disease Laboratory

All funded Genomic Tests commissioned by NHSE are published in the National Genomic Test Directory (NGTD), along with eligibility criteria. The NGTD is regularly reviewed and updated by a national panel of experts which includes clinicians and scientists, to ensure that the tests available have the greatest clinical utility. Eligibility criteria for genomic tests change, so even if you repeatedly request the same tests, it is important that you check the NGTD regularly for updates. Tests that do not appear in the NGTD are not commissioned by NHSE and will not be delivered by the GLH laboratories. The most recent version of the NGTD is available online.

The NHSE GU also wants to ensure that tests are being performed because they have clinical utility and not simply because they appear in the NGTD. They have issued very strong guidance in this regard.

“Demand for genomic testing has grown since the establishment of the NHS GMS. …. At present this increase can only be met through improved efficiencies in the end-to-end testing pathway. This includes ……. clinically driven assessment of the utility and benefit that a genomic test result may provide.”

“Clinical utility means tests should only be requested where there is clear evidence the result is highly likely to change clinical management of the patient or their family. Management includes determining clinical investigations; and/or therapeutic/treatment decisions or strategies; and/or enrolling in approved surveillance programme”. NHSE, June 2025

The North Thames GMS wishes to continue to deliver high quality genomic tests to as many patients as possible, thus we must have a service for our patients and people that delivers the right test, at the right time. To do this we need the right information.

Starting immediately, we will no longer be able to accept referrals for genomic tests that don’t explicitly meet the eligibility criteria which are set out in the National Genomic Test Directory.  

To allow the North Thames Rare & Inherited Disease laboratory to effectively work to these guidelines, please ensure that when you request a test for a patient you follow these steps:

1. Check the online test directory for the most up-to-date eligibility criteria for each test.
2. Ensure your test request demonstrates that your patient meets the exact eligibility criteria/is compliant with the NGTD
3. Provide information that explains the clinical utility of the test you are requesting for your specific patient

Our website has information on the National Genomic Test Directory, genomic testing pathways, referral forms, and contact information for your local laboratory. We will continue to support you and work with you to ensure that your patients receive the genomic testing that they are entitled to.