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Inequalities in Access to Genetic Testing Services for Inherited Retinal Disease highlighted by Global Patient Group on World Sight Day

8 November 2017

On World Sight Day, October 12th 2017, Retina International together with its 43 member organisations and interested groups sent 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).

IRDs and REDs must be considered as actionable diseases since now, with the appropriate genetic diagnostic information, improve management can often be provided. Genetic testing for IRDs and REDs) has many benefits to patient care, yet is too often considered a luxury. With precision medicine highlighted as the future of healthcare delivery, genetic testing should be embedded in national healthcare systems.

The unforeseen complexity of conditions such as IRDs and REDs mean that a genetic test is the only way to confirm an exact diagnosis in an affected individual and their 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% of respondents who undertook a genetic test, 53% received their result through participation in a research project.7% received genetic testing services through their national healthcare system.

Worryingly only 14% of eye doctors have referred patients for a genetic test, dropping to 3.33% sent for testing by a family doctor and 1% by an optometrist. These stark figures highlight the lack of awareness among medical professionals of the importance of genetic testing for IRDs and REDs. Retina International is concerned that 66% of respondents are waiting 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 providing information on the subject. The RED ALERT Toolkit is available here:

The ongoing evolution in genetic testing for individuals with complex genetic conditions such as IRDs and REDs now allows the specific genetic cause of the patients’ condition to e identifie. This can now often be examined with a single test. As previously outlined there are many reasons that patients choose to pursue genetic testing; however, the cost of testing and financial responsibility continues to be a factor in the decision-making process. Genetic testing can range from less than a few hundred dollars to thousands of dollars, and a common question asked by individuals seeking genetic testing is whether insurance will pay for testing and how much will be covered. Currently Insurance coverage for genetic testing varies depending on the plan and the region a patient lives in.

Although not all IRDs and REDs have treatments available today, genetic testing will help make these individuals eligible for treatment as they become available and is allows improved clinical management related to the genetic type. The current lack of systematic support of genetic testing by some insurers and health policy makers when there is no official treatment available jeopardizes the opportunity for patients to have access to improved care. Retina international and its members do not agree with this assertion.

Patients affected by IRDs and REDs do not believe that genetic testing for their conditions is a luxury but a much needed human right.

Professor Elise Heon, Consultant Ophthalmologist at Sick Kids Hospital Toronto said, “Access to a genetic test for an inherited retinal disease is critical to patients and their families. In addition to access to novel therapies, genetic testing provides patients and families with improved, counselling and management. This knowledge is also empowering to patients lifting what is described by them as a “burden of uncertainty”. With insurers not systematically covering the cost of genetic testing, patients are turning to research institutions to provide answers but a research result does not allow access to improved clinical care approaches. I support Retina international in being a leader in highlighting this reality on World Sight Day.”

Ms. Christina Fasser president of Retina International said, “Since 1978 Retina International has been a leader in patient advocacy in research, therapeutic development and market access. The organisation has a multi-stakeholder approach to developing simple and informative tools that help its members, patients and medical professionals have good knowledge at their disposal so they can better understand what can be complex issues. We hope that the online toolkit on Genetic Testing for Rare Eye Disease and Inherited Retinal Disease will help patients and those who represent them to advocate successfully for better access to genetic testing services in order for them to receive an accurate diagnosis and the best care they deserve.”

Retina South Africa is at the forefront of advocacy and support for patients with retinal blindness in South Africa. They are partnered with the Division of Human genetics at the University of Cape Town to facilitate genetic testing for all South Africans. At present all genetic testing is done overseas at great costs and with long delays. They are fundraising to establish a Genetic Diagnostic Panel at UCT, to identify the gene mutations causing retinal blindness in South African families.

Claudette Medefindt, Head of Science for Retina South Africa is appealing to South Africans to assist in funding the panel: “Our particular challenge is to identify the gene mutations in our Black population. These genes are unique to South Africa, and probably Africa as well. Without a genetic diagnosis black patients will not have access to future therapy.”

The Dis-Chem Foundation has donated R100 000 of the R750 000 total needed for the panel.

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