On World Retina Day, Saturday, September 30th 2017, Fighting Blindness joins Retina International and its 43 member organisations in sending a RED ALERT to local, national and regional groups. This community believes the time has come to advocate for the 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 a 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 scientific understanding, discovery and therapeutic 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. 90% of those surveyed stated that their local member organisation had assisted them in accessing a genetic test. Retina International is also concerned that 66% of respondents are waiting over one year for test results. These international statistics reflect a similar situation in Ireland. A recent Fighting Blindness members survey showed that of the respondents who have had a genetic test, 80% had received this test through the Target 5000 programme, a patient orientated programme which aims to phenotype and genotype all individuals living in Ireland with an IRD. This reinforces the importance of and justifies the need for this important initiative.
The Retina International survey also showed that just 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. Again, these international figures reflect responses observed in the Fighting Blindness members survey. Addressing this, Fighting Blindness will continue their efforts to engage with and increase awareness amongst our clinical community.
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 online 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 counselling 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 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 Genetic Testing Toolkit for REDs and IRDs 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”.