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New Genetic Eye Test Announced

Inherited blindness; a new genetic test offers better diagnosis and treatment for many more patients. Professor Graeme Black, Professor of Genetics and Ophthalmology at Central Manchester University Hospitals NHS Foundation Trust and Director of the National Institute for Health Research funded Biomedical Research Centre in Manchester, UK, today announced a unique genetic testing service for patients with inherited blindness at the UK Eye Genetics meeting in Bristol.


The test will give many more patients a definitive diagnosis of their condition and allow some to preserve their sight for longer with directed medical management and new treatments. The new test can analyse more than 100 genes in parallel, compared to fewer than 10 that current tests can scan.  The test is based on next generation DNA sequencing technology and advanced computer science and over 700 patients every year will be tested, although there are already plans to increase this if there is demand.


Professor Black, who is a Professor at the University at Manchester, said: "This test has been developed and costs driven down to make it as affordable as possible for the NHS. We are working with colleagues across the Manchester Academic Health Science Centre to launch a series of genetic test services based on the new technologies to improve the treatment of cancer, heart disease and many other common and rare conditions.  Our aim is to make personalised medicine a reality for most NHS patients."


The service, which will benefit patients across the UK who have been referred to their local clinical genetics service, will allow experts to diagnose conditions such as isolated progressive retinal degeneration, Leber congenital amaurosis, and achromatopsia, as well as the two most common causes of syndromic blindness Usher and Bardet-Biedl syndromes.  It will be available from 1st February.


Vision charities 'RP Fighting Blindness' and 'Fight for Sight', as well as an advisory group of patients affected by the conditions, have been central to the development of this service.


David Head, Chief Executive at RP Fighting Blindness said:  "This is a big step for these patients.  More efficient diagnosis - and thus more accurate prognosis for sight loss - is key to enabling patients to make decisions about their future. We are delighted to have supported Professor Black's work and seeing the results in terms of direct patient benefit is very satisfying. In addition, efficient genetic testing is very important in progressing research into a cure or treatment, which is our ultimate aim of course."

Michele Acton, Chief Executive of Fight for Sight, said: "As a result of this new test, hundreds of patients in the UK could receive a genetic diagnosis of their condition for the first time. Potential treatments for some inherited eye diseases are currently in development, and if these are to be successful, a precise diagnosis is crucial. For the many people who currently have very little information about their eye condition, this new test marks a major step forward."


Notes to Editors:


  1. The new test, a comprehensive mutation scan of 105 genes known to cause retinal degeneration will detect mutations in approximately 60% of patients. The test includes a full clinical interpretation of variants found. The test is a step change advance over current tests using conventional technologies which can scan fewer than 10 genes and detect changes in less than 40% of patients. At £897 per scan the test is designed to be affordable for NHS referrers making the test accessible to many UK patients.


  1. The new test is part of a development backed by a £750.000 investment in equipment and staff from the Central Manchester Foundation NHS Trust Board in state the art diagnostic laboratory and computer facilities in its Genetic Medicine Department in St Mary's Hospital.


  1. Biographical note - Professor Graeme Black was appointed Professor of Genetics and Ophthalmology in 2002 and Director of the National Institute for Health Research funded Manchester Biomedical Research Centre in 2009. He is currently an NIHR senior investigator and was recently appointed as Director of the Manchester Institute of Human Development and is leading the development of Healthcare Genomics in Manchester.


  1. Visit www.mangen.co.uk/news.aspx for information for patients and health professionals about the service.