Dr. Reynolds

Common patient question: “A 23andme genetic test says I have two genetic markers for age-related macular degeneration (AMD). Does this mean I’m going to have it?”

THE ANSWER:

With the availability of this FDA-authorized Genetic Health Risk report, this question is becoming increasingly common in the optometric practice. As a result, it makes sense that we, as optometrists, be prepared to answer it. Here are the scripts that I use:

Patient with no other risk factors:

“Having genetic markers means you are at risk for developing the condition, but risk is not the same as a foregone conclusion. The only way to definitely diagnose AMD is through a yearly comprehensive dilated eye health exam, during which I can look for early signs of the condition, and, if needed, create a plan of action aimed at maintaining your vision. Early detection is related to the best patient outcomes, so it’s crucial you see me annually. In between visits, it’s a good idea to be mindful of your BMI, cholesterol level or blood pressure, as increases in these items also place patients at risk for developing AMD.”

Patient with additional risk factors, such as older age (> 60 or older), family history, Caucasian race, light-colored eyes, obesity, elevated cholesterol, hypertension, smoking and low macular pigment optical density (MPOD):

“Having genetic markers means you are at risk for developing the condition, but risk is not the same as a foregone conclusion. That said, because you have other risk factors, such as a family history, in addition to checking the health of your eyes annually for early signs of the condition — so I can create a plan of action aimed at maintaining your vision, if needed — I’d like to order an in-office genetic test for the condition, called Macula Risk PGx, which has a 10-year predictive accuracy of 89.5%. The results of this test may indicate you could benefit from an ocular nutritional supplement. Additionally, I’d like you to make some lifestyle changes, such as smoking cessation and eating a healthy diet rich in green, leafy vegetables and fish, which can help decrease your risk. Early detection is related to the best patient outcomes, so it’s crucial you see me at the designated follow-up visits.” OM