23andme and Me
Genomics testing can have eye-opening results
In December, I argued that government attempts to regulate personal genomics testing were misguided and counterproductive. No less important, inquiries by Congress into the practices of direct-to-customer genetic testing disregarded the buyer’s right to know his own genetic information.
This satisfied buyer is relieved that Congress has backed off. As a Hanukkah present for myself, I purchased a spit-collection kit from 23andme for $99, expectorated, and waited in eager anticipation for my full genetic sequence—complete with special profiles on my ancestry and health.
After a six-week-long wait, my genome saw the light of internet publication. I carefully navigated from tool to tool, uncovering a thorough mix of banalities and discoveries.
I read down a list of traits: brown eyes, shorter than average, does not flush with alcohol. 23andme had so far succeeded in describing someone’s first impression of me out on a Saturday night.
“Ancestry Finder” estimated my descent in terms of broad groups: European, Asian, and African. Having lived my entire life as a white man, I could have guessed that they’d tell me I was European—but maybe not the 99.97 percent that my genes volunteered.
“Paternal Line” and “Maternal Line” told the stories of my direct paternal and maternal lineages with shaded maps. As a carrier of haplogroup E1b1b1c1 on my Y-chromosome, I can trace my shtetl-dwelling great-grandfather’s line back thousands of years to the Holy Land.
It’s harder to comprehend that a vial of spittle can place odds on your future. 23andme offers a battery of health predictions, rating their confidence based on the strength of current genetic research on different conditions. As my father’s father has already manifested, I have a genetically elevated risk of stroke, ill reaction to blood thinners, and essential tremors.
As an 18-year-old, cancer is something I’ve scarcely imagined ever happening to me. But I’m told with four yellow stars of confidence that I have a 43 percent lifetime risk of prostate cancer, two and a half times the genetic average for a white man.
Unlike the “news” that I have brown eyes, or that I’m 99.97 percent white, this means something. I hope to find the resolve to start taking preventive measures as soon as I can, while keeping an eye out for warning signs and avoiding risk factors.
Along similar lines, 23andme detects that I’m a carrier for Canavan disease, which entails an average lifespan of four years. Incident at a rate of one in 40 among European Jews, the allele for Canavan is harmless if you have just one. Two recessive alleles spell a death sentence. A baby born with two cytosine alleles at the Canavan mutation site will degenerate progressively through early childhood as the myelin sheaths coating his nerve connections start to break down.
Unlike the estimated risk judged for prostate cancer, the meaning of a mutant Canavan allele is certain. If I were to reproduce with another carrier, every child would have a 25 percent risk of developing Canavan disease. Before I consider having children with anyone, I will have no humane choice but to know whether she’s also a Canavan carrier.
It’s manifestly clear that my Canavan allele could be a force for devastation and heartbreak – but there exists a possible flipside.
Conjectural work by Gregory M. Cochran and Jason Hardy of the University of Utah says that Canavan carriers might enjoy unusual, but beneficial changes in brain structure due to a single, potentially lethal allele. Could this begin to explain why my roommate calls me “the most different person I’ve ever met”?
The answer is nowhere near as sure as the color of my hair or the wetness of my earwax. But it’s hard not to swoon at the idea that one quirk in my genome could explain an infinity of quirks that defines my real-life comportment. 23andme is admittedly imperfect, and the computer readout of our disease risks in big, red letters evokes a very natural cognitive dissonance.
But don’t dismiss it. The science behind sequencing our genomes has become standard and irreproachable, and 23andme carries out the rest with a proper balance of caution and warning. I hope to act on my own results accordingly, with an added dose of reverence for every base pair. After all: DNA might not be destiny, but it’s what you’re made of.
Joshua B. Lipson ’14, a Crimson editorial writer, lives in Matthews hall.