Genetic Test Evaluation Process

The UKGTN evaluates new genetic tests that member laboratories would like to offer to NHS patients and which fall within the remit of UKGTN test evaluation:  

“Any genetic test provided by a UKGTN member laboratory for NHS service provision for rare disorders that usually affect fewer than 1 in 2000 as described in the UK Rare Disease Strategy”

Laboratories complete a form called a “Gene Dossier” which is submitted to the UKGTN Genetic Test Evaluation Working Group.  New genetic tests that are approved for service by the working group are recommended initially to the UKGTN Clinical and Scientific Advisory Group for ratification and subsequently to commissioners of NHS genetic services.  All approved tests are listed on the online database of genetic testing services and also added to the NHS Directory of Genetic Disorders/Genes for Diagnostic Testing.  This process assures commissioners and healthcare professionals that the new tests are appropriate for use.  

All approved Gene Dossiers are published on the UKGTN website and are available for download here.

A laboratory that wishes to offer a test already provided by another UKGTN laboratory completes an Additional Provider form. This form is the same document as the Gene Dossier but does not require all sections to be completed. There are some situations where a laboratory does not need to submit a Gene Dossier or Additional Provider form. Information about the documentation required by laboratories is available here.