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

On World Sight Day, October 12th 2017, 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).

IRDs and REDs must be considered as actionable diseases as today, with the appropriate genetic diagnostic information, improvements in the management of these conditions can often be made. Genetic testing for IRDs and REDs provides many benefits to patient care. With precision medicine highlighted as the future of healthcare delivery, Retina International and its members firmly believe that genetic testing should be embedded in national healthcare systems.

The unforeseen complexity of conditions such as IRDs 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 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 conducted in January 2017 (1) showed that research facilities are being relied upon by the majority of patients for genetic testing services. Of the group surveyed only 62% of respondents have ever even had a genetic test, and of these the majority 54% were paid by participating in research studies.

Worryingly only 14% of patients were referred by an eye doctor 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. 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: .

There are many reasons that patients choose to pursue genetic testing, however, the cost of testing and financial implications following a test result continues to be a factor in the decision-making process. Despite the evolution in genetic testing meaning that many candidate genes for conditions such as IRDs can now be examined with a single test, cost remains an issue. A genetic test can range from less than a few hundred dollars to thousands of dollars, and a common question asked by individuals seeking this service 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. (2)

Although not all IRDs have treatments available today, genetic testing will help make these individuals eligible for treatments as they become available in the future. However the approach taken by some insurers and health policy makers is that patients should not receive testing if there is no treatment option available. Retina International and its members do not agree with this position. Failure to provide genetic testing for those affected by IRDs is limiting the individual’s ability to make informed life choices and hindering research and innovation into therapies for this underserved community.

On October 12th, 2017, World Sight Day, Retina International, its 43 member organisations and interested groups are sending a RED ALERT to those who develop health policy nationally and internationally. Patients affected by IRDs do not believe that genetic testing for their conditions is a luxury in healthcare; it is a 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 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’.

(1) Retina International patient survey – January 2017.

(2)The cost of genetic testing for ocular disease: who pays? Jenina E. Capasso, Licensed Certified Genetic Counselor, Wills Eye Hospital, Department of Pediatric Ophthalmology and Ocular Genetics, Philadelphia,


About World Sight Day

World Sight Day is the day on which the vision community at large highlights the key issue faced; from understanding, awareness, prevention of blindness as well as access to care and services. This day is the most important one in the eye health calendar.

Poor eye health is underappreciated, is common worldwide and a major socio-economic burden. Eye health is often misunderstood and not prioritised within healthcare systems. It can be perceived as a condition people are born with that will never improve, through accident or a result of aging. The sighted community are often under the impression that an individual can see or you cannot see, this is not the case. As there are different types of vision there are different types of blindness. It is estimated that there are over 36.0 million of blind and over 215 million of severely to moderately visually impaired people alive (Bourne et al, Lancet 2017). The prevalence of these conditions is steadily increasing with age and population growth.

Individuals can be born with conditions that cause sight loss such as Inherited Retinal Disease or Rare Eye Diseases or these may develop with age.  There is much to be hopeful for as research is laying the groundwork for novel cell and gene therapies. Visual aids and artificial retinal prosthesis are playing an important part of reality in how those affected by sight loss can better view the world while new and established therapies are being developed, however, accesses to these devices and therapies are out of reach without a proper diagnosis.

Adequate management relies on a clear diagnosis for those affected by IRDs, REDs and Age Related Eye Disease. In many cases such as those affected by conditions such as AMD, early diagnosis can lead to preservation of vision.

On World Sight Day 2017, Retina International and its members are calling on health policy makers to improve access to genetic diagnosis in ocular disease.

About Retina International

For almost 40 years, Retina International (RI) has been the voice of patient-led voluntary groups, charities and foundations worldwide that fund and support retinal research that is seeking a cure for Retinitis Pigmentosa (RP), Macular Degeneration, Ushers Syndrome & Allied Retinal Dystrophies. RI advocates for better infrastructure that will aid the acceleration of therapeutic development for unmet needs through support of research in its journey from the laboratory to the patient, ensuring that the voice of the patient is central to all decision making processes along the way.

For further information contact: 
Avril Daly, CEO Retina International