Retina calls for greater access to and reimbursement of genetic testing
On World Sight Day, October 12, Retina International together with its 43 member organisations and interested groups is sending a ‘Red Alert’ to health policy makers, calling on them to provide access to and reimbursement of Genetic Testing Services for Inherited Retinal Disease (IRDs) and Rare Eye Disease (REDs).
According to Claudette Medefindt, Head of Science Retina South Africa, IRDs and REDs must be considered as actionable diseases since now, with the appropriate genetic diagnostic information, improved management can often be provided. Genetic testing for IRDs and REDs has many benefits, yet is too often considered a luxury.
“With precision medicine highlighted as being the future of healthcare delivery, genetic testing should be embedded in national healthcare systems,” said Medefindt.
“The unforeseen complexity of conditions such as IRDs and REDs means that a genetic test is the only way to confirm an exact diagnosis in an affected individual and his or her family.
“This provides information on prognosis, the inheritance pattern of a particular condition and can provide insight into associated health risks or lifestyle changes that need to be made.
“Importantly it can also highlight potential opportunities to participate in research studies and is a prerequisite for access to clinical trials and emerging treatments.
“A Retina International patient survey on genetic testing for IRDs showed that research facilities are being relied upon by the majority of patients for genetic testing services.
“Of the 62 per cent of respondents who undertook a genetic test, 53 per cent received their result through participation in a research project.
“Seven per cent received genetic testing services through their national healthcare system.”
She said it is worrying that only 14 per cent of eye doctors have referred patients for a genetic test. Only 3.33 per cent were sent for testing by a family doctor and one per cent were sent by an optometrist.
“These stark figures highlight the lack of awareness of the importance of genetic testing for IRDs and REDs among medical professionals.
“Retina International is concerned that 66 per cent of respondents are having to wait over one year for test results.”
To address the lack of awareness on the importance of genetic testing for IRDs and REDs, Retina International in collaboration with stakeholders representing, patients, clinicians, researchers and genetic counsellors published an on-line toolkit which provides information on the subject.
The Red Alert Toolkit is available here: https://www.retina-international.org/toolkit-redalert .
