Ronald Crystal was rappelling off a frozen waterfall when he fell, ruptured his quadriceps, and bled a liter of blood into his right thigh. What he didn’t know then was that the heavy bleeding was the combined effect of his genetic makeup and his anti-platelet medicine.
Crystal is the head of genetic medicine at Weill Cornell Medical College. While studying the genome of the Qatari people, he had his own entire genome sequenced at the Genomics Core Laboratory on Weill Cornell's Qatar campus.
He wanted to use his genome as an experimental control. “We write papers and we give talks and we write grants, and we’re always saying that personalized medicine is the thing of the future … I decided I would really find out,” he says.
Three weeks of DNA sequencing, one week of analysis, and $2,700 later Crystal learned much about himself: that he had a distant Viking ancestor, that his baldness was inevitable, that he has a recessive gene for a neonatal disorder with implications for his son’s family, and that his chances of a major bleeding event are increased if he takes the anti-platelet drug Clopidogrel (marketed under the brand name Plavix), which he does. Crystal now takes a lower dose and believes that pharmacogenomics is a valuable outcome of sequencing.
Deciding to get your genome sequenced is tough; even more so if, like Crystal, you decide to make the results public. He lists the apprehensions he had while waiting for his genome: privacy, insurance, ancestry, paternity, the feelings of his family, control of genetic information in a digital world, that his DNA could be planted at a crime scene or, in the worst case, that he could be cloned.
The one gene variant that Crystal hoped he wouldn’t have, and is thankful he doesn’t, was ApoE4, which is associated with early onset Alzheimer’s. “Genetics are way ahead of therapies, and there are many genetic abnormalities for which there’s absolutely nothing we can do,” he says.
Crystal puts the need to communicate the potential and the problems of genomics to the public ahead of his personal worries. His success thus far with a time-tested formula for battling disease — “Don’t smoke, don’t do drugs, drink in moderation, eat healthy, maintain normal weight, and exercise” — was another deciding factor for getting his genome sequenced: “I figured I’m old enough so it doesn’t matter,” says the 71-year old physician scientist who rappels off waterfalls.
Nayantara Narayanan is a reporter at ClimateWire, an environment and energy policy magazine. She is a graduate of the Columbia University Graduate School of Journalism and a former producer and editor at CNBC India.