Genetic Testing for RP. Case Study of the UK Stephen Jones RP Fighting Blindness British Retinitis Pigmentosa Society

Background RP Fighting Blindness has been funding a project to develop genetic tests for RP under Prof Black at Manchester University since 2005 Tests are available for some forms of X-Linked RP and Dominant RP and are being developed for Recessive RP The laboratory in Manchester carries out NHS funded tests and tests for research projects

Why Have Genetic Testing for RP? Better diagnosis and better prognosis of the way RP may develop. Helping ophthalmologists to make better clinical judgements and recommend appropriate genetic counselling. Helping RP patients and families to make important life decisions, for example, pregnancy and career choices Identifying patients for clinical trials

Do RP Patients Want Tests? Research is underway on this subject, preliminary findings indicate: High demand for RP patients to know their own particular gene fault High demand for testing to be available for family members who want a test Lower level of demand for pre-natal testing and pre-implantation selection of embryos

Do Clinicians Want Testing? UK ophthalmologists specialised in RP mostly want access to testing for their patients But, budgets are in the hands of geneticists and not ophthalmologists, so all requests for tests have to be approved by genetics departments

Is Testing Available? Not for all RP patients – some genes not yet found; some genes found but tests not yet developed and approved Even when test exists, approval of request often refused. Reasons – clinical utility and funding Geographic access is patchy. Postcode lottery.

Future Possibilities More research, more tests developed But, less money available within NHS to pay for testing However, cost of testing may fall High throughput gene sequencing Greater availability of private testing but not without concerns Important debate over ethical issues

RPFB Actions Continue scientific research funding Collaborate with social research projects Keep RPFB membership informed through website, newsletters, helpline etc Maintain some pressure on government bodies, such as UK Genetic Testing Network, to improve access to testing for RP patients