Access to Genetic Testing and Clinical Trials

Importance of Genetic Testing

Genetic testing is of utmost importance for many IRDs due to their genetic origin. Genetic testing can aid in diagnosis and, critically, it can determine if individuals have a specific mutation that may be treatable by specific gene therapies. Access to genetic testing varies widely across the world, with some areas not having access at all.

Retina International feels very strongly that patients need access to genetic testing in order to have the best chance of accessing treatment and advancing research. We are determined to provide information necessary for patients and patient groups to advocate for access to genetic testing.

Clinical trials look at new ways to prevent, detect, or treat disease. Clinical trials can study new drugs or devices or combinations, new ways of doing procedures, new ways of using existing drugs or devices and new ways of changing behaviours. The goal of clinical trials is to determine if new approaches to treatment, prevention, and behaviour are safe and effective.

With no effective treatments approved for the majority of IRDs, clinical trials currently provide the best opportunity for people with IRDs to receive a novel treatment that could potentially stop or slow down the progression of their disease. It is important to note however that clinical trials may not be suitable for all people. Speak to your doctor if you are interested in participating in a clinical trial, to learn about options for participation and potential risks and benefits.

You can hear retinal researcher Prof John Flannery give his views on the importance of genetic testing in this video ‘No gene, no gene therapy’.