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