New NHS retinitis pigmentosa genetic screening service

In May 2011 a five year study funded by a £365,000 grant from the British Retinitis Pigmentosa Society led to increased access to genetic testing for patients with retinitis pigmentosa (RP) and their families.

The project by Professor Graeme Black, Dr Rob Elles and colleagues was designed to develop cost-effective strategies for genetic testing and to demonstrate the clinical utility of testing to NHS commissioners.

The ultimate goal was to integrate a defined test for RP into the NHS and make it accessible to the UK population. The study built on conventional assays integrated into an expanded 105 gene panel test using next generation sequencing. This resulted in a 65% diagnostic rate compared to around 15% with the old technology. The study maintains a running audit of the service to measure mutation detection rates, cost effectiveness, clinical utility and access.

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