Rare and Inherited Disease genomic testing (including inherited cancer) is offered in accordance with the National Genomic Test Directory for Rare and Inherited Disease.
In October 2018, the National Test Directory for Rare and Inherited Disease was published. The National Test Directory is updated each year to ensure access to the latest diagnostics and treatments.
The Directory specifies which genomic tests are commissioned by the NHS in England, the technology by which the tests are available, and the patients who will be eligible to access each test.
A document outlining the eligibility criteria for testing supplements the National Genomic Test Directory. It lists the clinical specialties who would be expected to request for a given clinical indication and sets out which patients should be considered for testing under that indication. This will help you to identify the most appropriate test for your patient. This information should be added to your test referral form.
An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place prior to testing. A record of this discussion must be retained within the patient record when a genomic test is ordered.
If you require access to rare disease genomic services please continue to follow local process and refer to your local GLH service.