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Direct-to-consumer genetic database used to identify AMD variants

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Theodore Leng

CHICAGO — Researchers used a direct-to-consumer genetic testing service to identify patients with CFH Y402H and ARMS2 A69S alleles, the genetic variants most commonly associated with an increased risk for developing age-related macular degeneration, a speaker said here.

“This is the first description of an unselected cohort of AMD patients with Y402H and A69S alleles identified through direct-to-consumer genetic testing,” Theodore Leng, MD, MS, said at the American Society of Retina Specialists annual meeting.

The national cross-sectional study included nearly 3.5 million participants who used 23andMe, a direct-to-consumer genetic testing service. Researchers genotyped participants, with their consent, between 2013 and 2019 on custom Illumina genotyping arrays, Leng said.

Approximately 35% of participants exhibited the Y402H allele and 23% of participants exhibited the A69S allele. The Y402H variant was common across all genetic ancestries, except East Asian participants. However, 41.6% of East Asian participants had the A69S allele variant, the highest frequency among ancestries, Leng said.

Genetic testing may identify patients with high-risk genotypes and improve disease identification and monitoring. This could also lead to earlier treatment of advanced AMD, which can optimize visual outcomes, he said. – by Robert Linnehan

Reference:

Leng T. Frequency of age-related macular degeneration risk alleles Y402H and A69S in a direct-to-consumer genetic database. Presented at: American Society of Retina Specialists annual meeting; July 27-30, 2019; Chicago.

Disclosure: Leng reports no relevant financial disclosures.