Genetic testing provides doctors with additional information to make management decisions

The “Genetic Testing Focus” column presents optometrists’ firsthand experiences with a new test via answers to questions posed by Optometric Management.

PLEASE DESCRIBE THE GENETIC TEST

AvaGen, from Avellino Lab, Inc., quantifies the genetic risk of keratoconus and the presence of gene variants associated with transforming growth factor beta-induced (TGFBI) corneal dystrophies. Specifically, the test delivers for keratoconus a polygenic risk score that is categorized as low, medium or high, along with relevant variant analysis; and for corneal dystrophies a monogenic data of 70 TGFBI gene variants with a yes/no indication.

FOR WHOM IS THE TEST INDICATED?

Mile Brujic, O.D., F.A.A.O., partner of Premier Vision Group in Northwest Ohio, says two primary categories of patients are ideal candidates for testing: Patients who have suspicious clinical findings without a concrete diagnosis and patients who have a strong family history of eye disease. Some candidate examples include patients who have cylinder that is oblique or against the rule, highly or quickly progressing myopes and young patients who may be absent of any obvious pathology but are not refracting down to 20/20.

“By testing these patients, we obtain additional genetic information that allows us to be actionable,” he explains. “It can change our recommendations and give us a better sense of how closely we need to be monitoring these patients.”

At the time of the writing of this column, Rachelle Lin, O.D., M.S., F.A.A.O., assistant professor at Marshall B. Ketchum University in Fullerton, Calif., was awaiting the test results for one patient, in particular.

“I currently have a patient with signs of keratoconus in one eye more than the other,” she describes. “He also has a progressive retinal condition, and we have been weighing whether or not to move forward with cross-linking.”

HOW IS THE TEST PERFORMED?

The test is performed in-office with a simple cheek swab. The swab is then sent to a lab for analysis. The results are uploaded to a HIPAA-compliant portal and include a colorful visual representation of the patient’s risk, which is easy for them to view. Avellino has genetic counselors available at no cost to assist doctors or patients with added support, should it be needed.

HOW DO YOU RECOMMEND THIS TEST?

Dr. Brujic says it’s important to communicate with patients about the cost of the test (which is currently out-of-pocket) and how, specifically, the information will be used.

Dr. Lin offers it’s important for patients to understand that the genetic risk number is one of several data points that can come into play when making decisions around the patient’s care.

“As with any genetic testing, patients need to be well informed about the benefits and limitations of the test, so they can make an informed decision [as to whether] to proceed,” she adds. “Patients should also make use of genetic counseling after receiving the test results.”

DATA-DRIVEN DECISIONS

Dr. Brujic says he has found that for patients in whom testing makes sense, the information is mostly appreciated.

“In general, more people are becoming comfortable and interested in the data we can derive from genetic testing,” Dr. Brujic sums up. “It enhances the patient perception that they are receiving better care, and it’s allowing us to make more data-driven decisions.” OM