Advocacy Communications Document Exchange | 30 September 2017

Patients Call for Equitable Access to Genetic Testing on World Retina Day 2017


RI and our 43 members and interested groups work hard to develop policies to aid the delivery of better quality of life and improved care for those living with Inherited Retinal Disease known as IRDs and Rare Eye Disease known as RED as well as Age-related Macular Degeneration known as AMD. We work across the entire health sector from primary care to tertiary care, from advocating for improved diagnosis to better access to innovative therapies. We work with Health Care Providers (HCPs) developing new care pathways to improved infrastructure to support retinal research.

Fundamental to our work is ensuring that the patient voice is central to the process of therapeutic development, including clinical trial design, to maximise the best impact on patient populations. More and more the patient voice is becoming central to the lifecycle of drug development.

Collaborative patient led groups like RI work to provide patients with the tools they want and need to ensure that they are informed patient advocates. Our community has cited the issue of Genetic Testing as an advocacy priority and fundamental to patient empowerment and the acceleration of innovation for IRDs.

There is too little awareness among health policy developers about the essential role of genetic testing in diagnosing IRDs and REDs.

Access to these services should be prioritised but not only are they not, their purpose is misunderstood. Health Insurers are far from convinced that genetic testing is essential even when there is no treatment options. The members of Retina International fundamentally disagree with this assertion.

Knowing the gene that is causing the IRD in an individual and their family brings much needed clarity and is often described as ‘relieving the burden’ that has been carried daily. The relief of finally knowing how the condition will progress and how it may be inherited provides the knowledge to make informed decisions on so many aspects of life from deciding on educational opportunities and career choice to influencing where a person or a family lives., As is the case with Stargardt Disease patients will learn the role nutrition can play in the development of a condition. Gene identification puts individuals and families in position to contribute to research, participate in a clinical trial or have the potential to receive novel treatment.

All of these life changing outcomes should not be the reserve of the few. A 2017 RI patient survey revealed that of the 62% who had a genetic test 53% accessed this through participation in a research study. This confirmed what has been long suspected, there is an over reliance on research laboratories to provide genetic testing, not only is this an unfair system as not all patients will qualify to participate in research projects but it is unsustainable and puts a further strain on research facilities.

Through the survey we learned that generally patients do have a good knowledge of how to access genetic testing services as they rely on their member organisations at national level to advise them. Patients however are not familiar with the very basics of genetic testing and the different types of test, particularly the difference between a clinical grade genetic test and a genetic test conducted as part of a research project

What has caused great concern is the lack of understanding among medical professionals about the importance of referring patients..

Below are some of the results:

62% of respondents to the survey had had a genetic test
53% of those who have received a result have done so through participation in a research project – the overreliance on research grade testing is unsustainable and raises many concerns.
14% of referrals were through an eye doctor. Only 3.33% were referred for testing by a family doctor and 1% by an optometrist.
90% of those surveyed stated that their local patient organisation assisted them in providing information on genetic testing services.
66% of respondents were waiting for over 12 months for test results. 

To address gaps in knowledge of genetic testing services, RI together with patient representative, eye doctors and researchers have developed an easy to us on-line toolkit as part of this website. The toolkit provides basic information on genetic testing and outlines some of the considerations for patients wishing to take a test and the frequently asked questions. You can access the toolkit here !

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