The National Genomic Test Directory is a comprehensive resource developed by NHS England that outlines the genomic tests commissioned within the NHS. It specifies the available tests, the technologies employed and the eligibility criteria for patients, for healthcare professionals.
The directory is divided into two main sections:
1. Rare and inherited diseases: This section details genomic tests for various rare and inherited disorders, specifying the appropriate testing methodologies and patient eligibility criteria. A supplementary eligibility criteria document provides further guidance on which specific tests to request, and outlines patient considerations for each indication.
2. Cancer: This section specifies genomic tests related to cancer, including eligibility criteria and ordering procedures. It is categorised into Adult Solid Tumours, Neurological Tumours, Sarcomas, Haematological Cancer, and Paediatric Tumours.
Healthcare professionals can access the National Genomic Test Directory via NHS England/s website here: https://www.england.nhs.uk/publication/national-genomic-test-directories/
The directory is regularly updated to incorporate the latest advancements in genomic medicine, ensuring that practitioners have access to current information. Communications relating to updates to the directory are shared by our colleagues within the NHS North West Genomic Laboratory Hub. https://mft.nhs.uk/nwglh/
When ordering tests, professionals should consult the directory to determine the appropriate test for a given clinical indication, understand the testing methodology, and confirm patient eligibility, supporting standardised and equitable access to genomic testing across England.
The implementation of the National Genomic Test Directory has significantly enhanced the diagnostic process for patients. By providing a framework for genomic testing, the directory facilitates earlier and more accurate diagnoses, particularly for individuals with rare diseases or cancer.
Early and precise diagnoses enable timely interventions, personalised treatment plans, and improved patient outcomes. Moreover, by reducing the time and uncertainty often associated with diagnosing complex conditions, the directory enhances the overall patient experience within the NHS.
@Genomics Education Programme (GEP) offers comprehensive resources on the National Genomic Test Directory to support healthcare professionals in understanding and utilising genomic testing within the NHS. https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/the-national-genomic-test-directory/
Key resources include:
GEP provides an in-depth explanation of the National Genomic Test Directory, outlining its purpose, structure, and the range of genomic tests commissioned by NHS England for rare and inherited diseases, as well as cancer. This resource also offers guidance on accessing and navigating the directory.
Glossary entry: A concise definition and explanation of the National Genomic Test Directory is available in the GEP's glossary, highlighting its role within the NHS Genomic Medicine Service and its coverage of various genomic tests.
Signed-off panels resource: The GEP offers a searchable online resource that provides detailed information about the gene panel tests listed in the National Genomic Test Directory, aiding healthcare professionals in selecting appropriate tests.
Guidance on completing test order forms: For those involved in requesting whole genome sequencing, the GEP provides step-by-step instructions on completing test order forms, ensuring accurate and efficient test requests in line with the directory's specifications.
These resources are designed to enhance the understanding and application of the National Genomic Test Directory, ultimately improving patient care through informed genomic testing practices.
In summary, the National Genomic Test Directory serves as a vital tool for healthcare professionals, guiding the appropriate use of genomic tests and ultimately improving the diagnostic journey and outcomes for patients.