Retina International is sending a RED Alert – On World Retina Day 2017
Online Toolkit on Genetic Testing for Inherited Retinal Disease launched by Retina International on World Retina Day 2017.
On World Retina Day, Saturday, September 30th 2017, Retina International together with its 43 member organisations and interested groups is sending a RED ALERT to local, national and regional groups.
This community believes the time has come to advocate effectively for the provision of equitable access to and reimbursement of Genetic Testing Services for Inherited Retinal Disease (IRDs) and Rare Eye Disease (REDs).
With the emergence of clinical trials leading to potential treatments for forms of IRDs and REDs it is essential that patients, medical professionals and those who develop healthcare policy understand the importance of identifying which gene affects each patient and their family. This knowledge provides clarity to those affected on how a condition is likely to progress or be inherited, allowing them to make informed life choices. It is also essential for enabling access to clinical trials and resultant therapies. Additionally, the impact that genetic diagnosis can have on discovery and innovation cannot be overemphasised.
A Retina International patient survey on genetic testing for IRDs showed that research facilities are being relied upon by the majority of patients for test results. Of the 62% of respondents who had 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 ophthalmologists 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.
90% of those surveyed stated that their local member organisation had assisted them in accessing a genetic test. Retina International is concerned that 66% of respondents are waiting over one year for test results.
The global retina community is troubled by these figures and is becoming increasingly frustrated at the lack of equitable access to and reimbursement of Genetic Testing Services. There is an overreliance on research projects to provide both the diagnosis and the critical after service, including genetic counselling. This is unsustainable
To address the lack of awareness on this critical subject, Retina International with the support of its members has developed an On-line Genetic Testing Toolkit to educate patients and medical professionals about what genetic testing means, the different types of testing and the importance of a genetic diagnosis. Through the provision of this easy to use site it is our hope that they in turn can advocate to those who develop health care policy in their country on the importance of access to and reimbursement of genetic testing services for IRDs and REDs, wherever a patient lives.
Dr. Juliana Sallum, who is an Ophthalmologist and Geneticist based in São Paulo, Brazil and a member of the Retina International Scientific and Medical Advisory Board (SMAB), contributed to this project. She stated ‘Genetic tests are important for 3 reasons. Firstly, the precise diagnosis of the dystrophy subtype helps doctors to better understand the diseases and improve the specific care for the specific disease. Secondly, genetic testing improves the confidence in the genetic counseling process for the patients and their families. And thirdly despite the fact that there is no treatment available, there are clinical trials testing treatments for specific cases due to pathogenic variations in specific genes. So knowing the genotype can allow the patient to be included in a clinical trial.
President of Retina International Ms Christina Fasser said ‘Since 1978 Retina International has been a leader in patient advocacy in research, therapeutic development and market access. The organisation has a multistakeholder 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’.
On World Retina Day 2017 Retina International is sending a RED Alert – It is time work together to improve access to and reimbursement of Genetic Testing Services for all affected by Inherited Retinal Disease and Rare Eye Disease.
For further information contact