Retinal diseases are among the most common causes of vision loss in the global working population. The impact of these conditions on quality of life, be they rare and inherited or age-related or diabetes-related, is immense. However there is hope. Potential treatments that could consign certain forms of blindness to the history books are imminent, yet understanding the genetic condition that affects each person is essential if clinical trials are to be effective and treatment successful.
Fighting Blindness and Retina International are working to ensure that people affected by all retinal diseases have access to the resources that will assist them in making informed decisions about their treatment options and indeed their participation in clinical trials.
In the case of inherited retinal diseases (IRDs) people affected and their families must understand the gene that is causing their condition. Access to genetic testing differs from country to country and region to region. The lack of equitability in access is a barrier to progress in therapeutic development and could result in further vision loss.
Christina Fasser, President of Retina International stressed the importance of genotyping in retinal disease; “Due to the genetic characteristics of inherited retinal diseases (IRDs), a good and reliable genetic diagnosis is a prerequisite for inclusion in the appropriate clinical trials. Retina International is currently developing a toolkit to enable its members globally to be informed about the new possibilities of genetic diagnosis and encouraged to promote and advocate for accessibility to a genetic diagnosis and the re-imbursement of genetic testing procedures in their own regions and countries.”
For millions of people, vision loss resulting from inherited retinal diseases can lead to difficulty with regular tasks around the home, anxiety about current or future employment, uncertainty about personal relationships, immobility and isolation. While emerging therapies offer great hope, these potentially life changing options simply cannot be accessed without a genetic diagnosis.
Avril Daly, CEO of Retina International, stated the need for those developing health policy in national healthcare systems to be aware that genetic therapies are becoming a reality and to plan for their delivery as a matter of urgency. She said; “Genetic testing can have a positive impact on individuals and families affected with inherited retinal disease in a number of ways. When properly performed, interpreted, and acted on, genetic tests can improve the accuracy of diagnosis and prognosis as well as genetic counselling. National healthcare systems must be made aware that clinical trials in inherited retinal diseases are a reality and treatments are emerging. The fact remains that without an accurate genetic diagnosis, patients from childhood to adulthood risk further vision loss as they will not be in a position to access the appropriate trial or treatment option for them. Unnecessary loss of vision is unacceptable to our community.”
None of the exciting developments currently being witnessed in the field of retinal disease would be possible without the involvement of specific cohorts of patients defined by their genetic profiles. Even decisions to dedicate research resources to pre-clinical work are dependent on the likely impact of success on that population. The effective translation of basic vision science to clinical application is a key objective for Retina International and its membership and access to genetic testing is critical to this end.
On World Retina Day the global community of stakeholders, comprising patients, researchers, clinicians and allied health professionals highlight the importance of equitable access to genetic testing for inherited retinal diseases globally in the hope of making a real difference – a difference that will be felt around the world in the pace of medical, surgical and technological progress towards a bright future we can all share.
The Fighting Blindness research project Target 5000 aims to provide genetic testing for the estimated 5,000 people on the island of Ireland who are affected by an inherited retinal degeneration. Click here for further details or contact Laura Brady on 01 6789 004 or email@example.com.
Retina International is a charitable umbrella association of 33 national societies, including Fighting Blindness,that are created and run by people with retinitis pigmentosa (RP), Usher syndrome, macular degeneration and allied retinal dystrophies, their families and friends.
Our mission is to facilitate urgently the development of and the global access to proven treatments and cures for retinal dystrophies. For further information please visit www.retina-international.org.