AMD risk phenotypes are characterized in a direct-to-consumer genetic database.
Genetic testing can identify patients with high-risk genotypes for age-related macular degeneration (AMD), said Theodore Leng, MD, MS.
Dr. Leng presented the results of a national cross- sectional study that assessed the frequency of the two most common genetic variants associated with an increased risk of developing AMD—CFH Y402H and ARMS2 A69S—in a cohort of approximately 3.5 mil- lion adults who had used DTC genetic testing (23andMe) between 2013 and 2019.
“Identification of patients with high-risk genotypes for AMD may aid in improved disease identification and monitoring for disease progression, which can facilitate earlier treatment of ad- vanced AMD and optimize visual out- comes,” he said.
Approximately 80% of individuals genotyped during the study period gave their consent.
RELATED CONTENT: Decreasing burden of nAMD therapy
THEODORE LENG, MD, MS
E: [email protected]
This article is based on Dr. Leng’s presentation at the recent scientific meeting of the American Society of Retina Specialsits. He has no relevant financial interests ot disclose.