World Retina Day 29th september 2018.
The Global Retina Community Calls for Action on Access to Genetic Testing Services for Inherited Retinal Degenerations on World Retina Day 2018.
On September 29th 2018, the global retinal community of patients, clinicians, scientists and allied health professionals will mark World Retina Day with a call for action by national health care systems, to provide equitable access to genetic testing services for Inherited Retinal Degenerations – IRDs.
IRDs such as Retinitis Pigmentosa (RP), Usher Syndrome, Stargardt Disease, Achromatopsia and Choroiderimia are among the most complex genetic conditions, causing the degeneration of the retina leading to severe visual impairment or blindness. People live with these conditions in all regions across all continents. As research leads to progress in clinical trial development and treatments emerge, the disparity in access to essential genetic testing services means that too many patients with IRDs will be left behind.
There are over 260 genes that can cause a form of IRD and without a genetic test an affected person and their family will not know which gene affects them. Furthermore they will not understand the progression of their disease or actions that can be taken in order to make informed decisions about their own healthcare. Retina International and its members are concerned that patients who could avail of existing and future treatments, participate in clinical trials or contribute significantly to the global research effort, will be unable to do so due to the lack of access to a genetic test.
Christina Fasser, President of Retina International, said, ‘All of us concerned with the development of research leading to potential treatments for retinal degenerations are living through an exciting period. This is the first World Retina Day where a gene therapy for LCA, a form of childhood blindness, is on the market. While it is currently only available in the United States, it is hoped to be also be available to patients in other regions of the world soon. Other emerging therapies are showing great promise in clinical trials and we are hopeful these will also become available to patients in the not too distant future.’ She continued, ‘Quite simply put, without access to a genetic test, a person living with an IRD will not only be unable to access potential therapies or trials but they will not understand how their condition is likely to progress in their family, what considerations need to be taken regarding lifestyle choice and will not have a personal care plan. IRDs are complex conditions but they are also actionable conditions and for patients to take action, so too must those who develop health policy at a national level. In this era of innovation and possibility, decision makers must understand that access to genetic testing for IRDs is now essential.’
IRDs can also be associated with other conditions such as kidney disease and ciliopathies. In some cases forms of IRD can be detected as a sign of a syndrome in children and young adults. There are also issues concerning diet that may need to be considered depending on which gene is causing a condition. A better understanding of the causative gene can also lead to making informed decisions on where to live, on education, on employment and also decisions around reproduction.
Patients who have had access to genetic testing services have felt empowered by receiving results that allow them to better understand their condition. Patrick from Ireland said ‘My daughter was diagnosed with Retinitis Pigmentosa (RP) as a young adult. While she always had night blindness the diagnosis came as a shock to us. Her clinical diagnosis indicated a recessive form of RP but a recent genetic test showed that this was in fact a dominant condition. The clarity the test results provided to us allowed our family to take action and inform other members of the findings. Of course this was a difficult thing but the fact that we can help the research effort by providing information on how this gene affects our family is a very empowering thing for all of us.’
Clinicians are also advocating for national health systems to recognise the importance of genetic testing. Mr. David Keegan, Clinical Professor of Ophthalmology and Retina at University College Dublin and Consultant Ophthalmic Surgeon at the Mater Hospital Dublin said ‘IRDs are complex genetic conditions and through the development of genetic testing tools we can now locate the causative gene faster and more accurately. This means that patients can understand their condition better and take the appropriate action. Patients know treatments are coming, and that there is already a gene therapy on the market. Without access to genetic testing services and to genetic counsellors there is a real fear that patients will be left behind, they will miss opportunities to potentially stabilise their vision and that is something we as clinicians feel is unacceptable. That is why we are supporting Retina International’s call for access to genetic testing services for IRDs on World Retina Day 2018.
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