Minor updates have been released to the national genomic test directory for both cancer and rare diseases. This includes additional information about eligibility requirements for testing and more stringent eligibility for certain breast and ovarian cancer whole genome sequencing tests.
View the current versions of the test directory.
Guidance notes have been added to all parts of the directory to provide additional information about patient eligibility.
The National Genomic Test Directory sets out test eligibility criteria to provide guidance on which patients may benefit from genomic testing. Tests should only be requested where there is clear evidence that a 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 nationally approved surveillance programme; and/or informing and supporting reproductive choices.
Updated national genomic test directory
Cancer whole genome sequencing eligibility changes (M233, M234)
The updated test directory for cancer alters the eligibility criteria for whole genome sequencing in:
- High grade ovarian cancer including endometroid (M233)
- Triple negative breast cancer (M234)
In both cases, testing is available where patients have exhausted standard of care testing and there is a clear clinical question, and results have expected utility/impact.
Routine standard of care testing should proceed in parallel to testing.