Recommendations for rare disease genetic testing

25 March 2015

The latest recommendations from the UK Genetic Testing Network (UKGTN) on new genetic tests for which NHS funding should be made available are open for public consultation.

The UKGTN evaluates new genetic tests offered by member laboratories for patients or family members with suspected rare conditions. It employs a widely recognised Genetic Test Evaluation process developed in 2003, since which time over 350 different genetic tests have been recommended for provision within the NHS.

The proposed new genetic tests would be used within specialised or highly specialised clinical services, and the UKGTN’s view is that funding these tests would lead to cost savings for the NHS, thanks in part to reduced costs of testing thanks to next-generation sequencing (NGS) technologies, but also to avoiding the need for additional diagnostic tests and making it easier to identify affected family members.

Of note, many of the new tests recommended are NGS-based panel tests that assess multiple genes simultaneously for variants associated with one or more related genetic disorders; these include new panels for familial forms of cancer, different forms of diabetes and metabolic disorders. If all 23 recommended new NGS panels were approved this would double the number available via the NHS. Two of the tests are for use in the context of non-invasive prenatal diagnosis technology and one uses a form of targeted exome sequencing.

The tests range across 37 different medical specialties and 21 different Clinical Reference Groups, nicely illustrating that genetics is increasingly forming a part of many different areas of mainstream medical practice.

The consultation is part of a wider 30 day NHS England public consultation into proposed new products, specifications and clinical commissioning policies for specialised services.

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