Incorporating genetic testing to better help your patients with inherited disorders
Roya Attar, OD, MBA, an associate professor at the University of Mississippi Medical Center, spoke with Optometry 360 about a tool that “not many” eye care providers are using in their clinics.
Roya Attar, OD, MBA, DHA, FAAO:
I just had the privilege of presenting at the American Academy of Optometry on a very unique presentation entitled, “Decoding the Retina: The Value of Genetic Testing and Inherited Disorders.” During this talk, we really focused on another tool that can be utilized, not just to provide us with a diagnosis, but also to rule out a diagnosis. We presented cases where individuals were misdiagnosed for years and with genetic testing they were correctly diagnosed. It’s a very valuable tool, possibly one that not many eye care professionals are using in their clinics, but one that is readily available through, and oftentimes free to the provider and to patients, certain foundations like Foundation Fighting Blindness and other organizations as well. One part that I also focus on is epigenetics.
Sometimes we’ll see these patients and they have a range of presentations for the same diagnosis. This goes for things such as macular degeneration, keratoconus, [and] retinitis pigmentosa. There’s just a spectrum of how these patients present. One of the things to focus on is why does that happen, especially when they have a similar gene? That is where epigenetics comes into play.
What is it that turns on the gene or causes the gene to mutate or somebody may present much more rapidly versus someone else who very mild and may slip under the radar for certain conditions. Why that’s valuable is because it’s something that we can also offer our patients when we take care of our patients holistically.
For example, for individuals with macular degeneration. Now AMD is not a monogenic disorder, but it certainly is, as we have learned, influenced by how patients take care of themselves. What’s the first thing we tell them? Don’t smoke. That is actually bringing in the concept of epigenetics, how the environment essentially affects our genetic blueprint. It’s a great presentation to give with my longtime colleague and mentor, Dr. [Mohammad] Rafieetary, which I enjoyed that. Just something else overall, again, to consider the value of genetic testing and something else that we can have at our disposal in clinics to utilize.
