I caved. I succumbed to the marketing of 23andMe, sent them a vial of my saliva and in return for about $200 was given an entertaining report on my Health and Ancestry.
In clinic I find myself talking about gene therapy more and more, what with gene replacement through the Food and Drug Administration’s approval of Spark Therapeutics’
Luxturna and more potential gene treatments in development, as well as early phase trials employing gene therapy as a platform for drug delivery in wet age-related macular degeneration driven by Adverum Biotechnologies and RegenxBio.
Superficially, the most gratifying finding in my report was that my “muscle composition” was found to be “Common in elite power athletes,” although my wife thinks this might be a mistake. I also learned that I am “Likely to consume more” caffeine, and I am “More likely to be a deep sleeper.”
More relevant to my daily practice, I learned that I harbor one of the two genetic variants tested for age-related macular degeneration, the Y402H polymorphism in the CFH gene, a genetic locus consistently found to be strongly associated with the development of AMD. This may help explain my family history of AMD. But, the report also informed me that since I am heterozygous, I am “not likely at increased risk of developing AMD.” Still, this finding sheds new light on my appreciation for my own vision and that of my patients suffering with AMD.
Cumulatively, an estimated three dozen genetic loci account for more than 50 percent of an individual’s risk of developing AMD. While we as a specialty do not routinely offer genetic testing for AMD to our patients, I believe that one day we will.
As we continue to develop new pharmaceuticals and devices aimed at improving outcomes and care delivery for patients with AMD, as well detailed by Michael Klufas, MD, and Donald D’Amico, MD, on page 14, I encourage these and future programs to incorporate an exploration of the underlying genetics. We have much yet to learn.