New North Thames Genomic Medicine Service Rare & Inherited Disease Laboratory Referral Form

On the 11^th of August 2025 we published an update about the impact that the significant financial pressures faced across the NHS on the NHSE Genomics Unit (GU) who commission genomic testing. We explained that in response to this the NHSE GU, and the North Thames Genomic Laboratory Hub (NT GLH) have taken the following steps:

• Tests that do not appear in the National Genomic Test Directory (NGTD) are not commissioned by NHSE. Therefore, they will not be delivered by GLH Laboratories.
• Test requests that do not meet the eligibility criteria outlined in the NGTD will not be accepted.
• As part of the eligibility criteria to proceed with testing, the clinical utility of the test must be stated by the referrer.

The NT GMS Rare & Inherited Disease Laboratory has updated our test order form for standard (non-whole genome sequencing) tests to include this. A copy of the new test order form is also attached to this letter. Copies can also be found on the NT GMS Website.  Please note that it is an NHSE requirement of NHSE that clinical utility must be stated in the test order for every test. If it is not stated, the test will not be undertaken.

When completing Clinical Utility on the Test Order Form, one of three options must be indicated (see below); and details of how the order fits the criteria.

• Patient management (determining therapeutic decisions and/or clinical investigations and/or surveillance programme)
• Patient, parents, or adult relative reproductive decision making
• Unaffected relatives are seeking predictive testing

Please note that whilst a patient may meet the eligibility criteria, if they do not meet one of the three clinical utility criteria a genomic test will not be conducted. A test should not be ordered if it is for interest only.

From the 1^st of December 2025, the NT GMS Rare & Inherited Disease Laboratory will not accept incomplete test order forms – all sections, including the clinical utility of the test must be completed.

To support clinicians with the implementation of new test order forms there will be extra Drop-In Educational Sessions across November and December – these will be held on the following dates.

• Thursday 6^th November: 12-1pm
• Thursday 20^th November: 11am-12pm
• Thursday 4^th December: 12-1pm
• Monday 8^th December: 3-4pm

If you would like to attend one of these sessions, please email nt-gmsa@gosh.nhs.uk

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.