diagnostic focus

Identifying AMD Risk

A portfolio of genetic tests aid in early diagnosis and personalized treatment

DEREK CUNNINGHAM, O.D.

As a practitioner striving to stay on the cutting edge of diagnostics and medicine, I utilize genetic testing to better understand the risk my patient population faces, both in the near term and through the course of their lifetime, for AMD. Current research indicates that the heritability factor of developing advanced AMD during one’s lifetime is 71%, which is why I use RetnaGene, from Nicox, in my practice.

Overview

RetnaGene is a portfolio of genetic tests designed to assess the comprehensive risk of late-stage AMD development. The portfolio includes two separate tests: RetnaGene AMD and RetnaGene LR.

RetnaGene AMD is designed for Caucasian patients older than age 55 who present with early to intermediate AMD, and it assesses their risk of CNV conversion at two, five, and 10 years out by factoring genotype, phenotype, age and environmental factors, such as smoking.

RetnaGene LR (Lifetime Risk) is targeted toward the same age and ethnicity group, in addition to younger patients with a family history of AMD. The test factors genotype, age and average lifespan statistics to provide a percentage risk for developing late-stage AMD after the age of 55.

Patients gladly pay out-of-pocket for this exclusive look into the future.

Procedure and training

Testing is performed by using a swab to collect cells from the inside of the patient’s cheek. The swab is then sealed and sent to a lab for genetic analysis.

Genetic testing takes only minutes and is easily done on patients, so the majority of staff training is spent on how to present the test and answer questions about genetic analysis. Performing the test can be taught in minutes and does not require any special government testing waivers, making it easy to implement.

Practice benefits

For patients with early AMD, looking at genotype in addition to phenotypical signs, such as presence of drusen or pigment abnormalities, improves our understanding of how quickly these patients may progress to choroidal neovascularization (CNV) and advanced disease. Risk-increasing or risk-mitigating genetic mutations, called single nucleotide polymorphisms (SNPs), can greatly affect the course of disease progression, causing significant variation from the currently adhered to AREDS Study disease progression guidelines. Accordingly, genetic testing for AMD provides O.D.s with an optimal understanding of a patient’s true late-stage AMD risk factor.

Further, genetic testing allows for more personalized patient care. RetnaGene expands our diagnostic capabilities and enables us to take steps to reduce the number of conversions that occur and remain under the radar. Ultimately, the goal is to identify those at high risk who don’t appear to be high risk, and, by doing so, improve our ability to proactively address and manage AMD.

In demand

While some might say it’s “better to not know,” I believe that we, as O.D.s, need to address this disease as proactively as possible. Patient demand for this service has been higher than expected, and has fortified our community perception as healthcare leaders. OM

DR. CUNNINGHAM IS DIRECTOR OF OPTOMETRY AT DELL LASER CONSULTANTS IN AUSTIN, TEXAS. HE HAS BEEN A CONSULTANT FOR BOTH NICOX AND ARCTICDX. SEND COMMENTS TO OPTOMETRICMANAGEMENT@GMAIL.COM.