NHS England have recently published the final draft of the 2018/19 National Genomic Test Directory, which will become operational from October 2018.

The Test Directory will specify testing delivered by the new Genomic Laboratory Hubs, including which genomic tests are commissioned by the NHS, eligibility criteria for patients and other information.

A final version of the Test Directory will soon be published, including changes to reflect the availability of whole genome sequencing from January 2019.

Over time, the Test Directory will also include other functional genomic tests, such as RNA based technologies and proteomics.

The final draft 2018/19 Test Directory is available to view on the NHS England website here.

An FAQ document answering questions about the development process and operation of the Test Directory, putting it in context with the NHS Genomic Medicine Service, is available to view on the GMC Network. This website will require you to login.

The Genomic Medicine Service will see genomic testing move into routine NHS care, following on from the pioneering 100,000 Genomes Project.

The 100,000 Genomes Project analysed and sequence the billions of letters that make up individual genomes (a person’s entire genetic code) to improve medical knowledge about some cancers and certain rare diseases.

Rare disease recruitment to the 100,000 Genomes Project will end in September 2018, with cancer recruitment continuing until December 2018.

For the last 15 years the UK Genetic Testing Network (UKGTN) has published the NHS Directory of Genetic Disorders/Genes for Diagnostic Testing, which evaluated and recommended genetic tests for rare and inherited disorders for the NHS across the UK. However, there was not an equivalent for cancer genomic testing.

The National Genomic Test Directory will evaluate and recommend tests for both rare diseases and cancer.

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