Nov 6, 2025

From Diagnosis to Support: The Role of Genetic Counselling in inherited eye disease

Rita Kodida, is a certified Genetic Counsellor (GC) who specializes in inherited eye disease, also known as inherited retinal diseases (IRDs). Rita works alongside Dr. Brian Ballios at the Kensington Eye Institute and Toronto Western Hospital’s Donald K. Johnson Eye Institute, where she supports individuals and families living with IRDs. With advanced training in both genetics and counselling, she helps patients understand their condition, navigate genetic testing, and explore how results may connect to treatment options or clinical trials. In this interview, Rita explains what genetic counselling involves, why genetic testing matters, and how she supports patients through the process.

What is genetic counselling, and how can it help someone living with an inherited retinal disease?

A Genetic Counsellor (GC) is a healthcare professional with specialized training and expertise in both medical genetics and counselling. GCs can work in a variety of settings, such as within a specialized clinic at a hospital, a laboratory, or they may serve as educators and researchers within an academic institution. A person living with an inherited retinal condition or a suspected IRD can benefit from a consultation with a GC and go through the process of genetic counselling. This involves communicating information such as the nature and inheritance of an IRD, identifying at-risk family members, helping patients make informed decisions related to their medical health, and guiding individuals and their families on genetic test results. Genetic counselling is not just information-giving, it is also a time for patients to receive supportive counselling.

Why might someone consider genetic testing, and what can the results mean for them and their family?

Undergoing genetic testing is a personal decision made by a person living with an IRD. Through genetic counselling, an individual will learn the benefits, risks, and limitations of testing, and they are also encouraged to think about and voice their own reasons for why they wish to do genetic testing. Some of these reasons could be to learn how they developed the condition in the first place, who else in their family may be at risk of being affected, and how their condition can be managed now and in the future. Genetic testing isn’t always a perfect test, and so it’s possible to also receive results that do not provide helpful information. These nuances of testing are addressed in genetic counselling.

How does genetic testing connect to new treatments or clinical trial opportunities?

We live in an exciting time because some of the therapies being developed and tested in clinical trials are specific to the gene(s) that cause IRDs. We already have one approved gene therapy (Luxturna, for the RPE-65 mutation), and we hope and expect more to be approved in the future. When someone understands which gene is linked to their IRD, this can potentially lead to opportunities for them, such as participating in a gene therapy clinical trial. However, it is important to note that this is not a guarantee for everyone with an identified gene at this current time.

What emotional or practical support do you offer to people after they receive their results?

Each person is unique and so the emotional and practical support is tailored to their specific needs. I offer a supportive environment where individuals can express their emotions and thoughts related to their results. I discuss additional resources they may need, such as a referral to a mental health specialist or community programs and resources. Individuals often need documentation of their genetic results to share with their family members and healthcare providers and so this is something they receive after their results session. Genetic results not only impact the individual living with the IRD, but also their family members. I make myself available to family members who wish to learn more about the findings and discuss their interest in genetic testing.

What’s one piece of advice you’d give to someone who’s nervous about starting the genetic testing process?

It’s normal to feel nervous. We acknowledge and respect the journey that each person took to get to the stage of genetic counselling. Genetic testing is not forced on anyone. There is also a lot of information online on what genetic testing entails, and the information may not always be up-to-date or accurate. For someone who is feeling nervous, I would recommend they consider meeting with a GC to receive some helpful information about testing, as well as for them to ask all their questions and explore their motivations and concerns around genetic testing.

Further Resources:
• Learn more about Genetic Testing for Inherited Retinal Diseases
• Canadian Association of Genetic Counsellors