Genome Sequencing's Affordable, and Frightful, Future

“Here it is,” I thought. “Mortality in an e-mail.” It had been almost four months since I walked into a lab at a Harvard research facility, rolled up my sleeve, and gave a vial of blood to have my genome sequenced.

Now my deciphered genome was complete. It appeared to be a good report. For one thing, I didn’t see the word “Alzheimer’s”—not that dementia runs in my family. I saw a variant linked to slightly higher-than-normal risk of macular degeneration. No surprise; about 10 percent of Americans develop this condition, and my mother has it. There was a variant linked to higher risk of schizophrenia, which I’m probably too old to develop. But then my eyes wandered back to the top of the report and an unfamiliar series of letters and numbers: JAK2-V617F. The JAK2 gene variant was classified as “well-established pathogenic,” meaning harmful. It appears frequently in people with rare, “cancer-like” blood diseases. Although most are treatable, this wasn’t the best news. My wife, Judi, and I agreed we would have to look into this further before starting to worry.