Lifestyle

DNA and a Doctor’s Dread

Having my genome sequenced was terrifying — and liberating.

Disease has no regard for timing, no respect for age. It can weave its way into every cell, through the very alphabet of life; four proteins twisted together like multicolored beads on a child’s bracelet — CATG, ATCG, TACG — already forming the DNA blueprint, or genome, of who we will become once we are born.

Disease also provides me with my daily bread. As a family physician, I work at the coalface of death. It’s not unusual for patients to walk into my consultation room feeling healthy, only to leave after half an hour, mortality suddenly dangling before them. Every time this happens, I feel another chink in my armor. Mine is a sobering profession that has slowly taken its toll on me over the years, leaving me with a trembling fear of which hideous illness I will eventually succumb to.

I come from a long heritage of Eastern European Ashkenazi Jews who must have collectively been first in line when the leftover stocks of crappy genes were distributed. Compared to samples of European genomes, the Ashkenazi Jewish panel has almost 50 percent more novel variants — Tay-Sachs, cystic fibrosis, and BRCA1 and 2, which are linked to breast and ovarian cancer — to name a few.

A recent study indicated that most Ashkenazi Jews, from which the majority of the American Jewish community is descended, are likely to be at least 30th cousins. Oy vey! Not only that, we share a tortured history of having to sit through years of family dinners laden with heart-attack food, like calf’s-foot jelly, chopped liver, and matzo balls. And as if this stacking behind the eight ball isn’t enough, I also have a personal family history of everything from melanoma and diabetes to Alzheimer’s disease.

Until now, I’ve been lucky enough to have been dealt a pretty good hand in the game of health. Aside from rotten migraines and mild asthma, I don’t suffer from any debilitating chronic ailments. But angst is one thing that bedevils me. As the years pass, I have found myself fretting more and more about when the wild card from that presumably lousy Ashkenazi Jewish deck will show up.

Last November, Illumina, a San Diego–based company on the cutting edge of genomics research, invited me to attend a Key Opinion Leaders summit. As part of the lead-up to this event, the offer to have my own genome sequenced was put on the table.

Being of Ashkenazi Jewish descent also means most of the branches of my family tree were shriveled up and blackened during the Holocaust. I don’t have many people left to ask when it comes to tracing my genetic roots. The summit would give me the opportunity to uncover the secrets of my DNA blueprint, something I’d always wondered about. But did I really want to know which disease I was at risk of developing over the next three or four decades? And what if it was something awful I could do nothing about? Might the answers provoke only more dread?

On the other hand, having my DNA mapped might ease a lifelong anxiety that I’m the one who’s ended up with all the Z, X, and Q tiles lined up on my genetic Scrabble tray of life. I felt terrified, yet curious. In the end, I decided to go ahead, reassured by the platitude I chanted over and over: “Knowledge is power.”

After a four-month nervous wait, as I worried about what I would do if the BRCA1 gene came back positive (Would I have a double mastectomy? Would I rip out my ovaries? How would I tell my daughters?), the day finally arrived when an email from my genetic counselor popped up in my inbox, asking me to call him. My results were back. I felt my stomach turn, my heart beating in its cage like a trapped bird. I picked up the phone and dialed the number, bracing myself for the worst. Skipping all pleasantries, I blurted out, “Okay. Give me the bad news.”

There was a pause at the other end of the line. I could hear my rapid breathing bounce back at me through the receiver.

“Well, there isn’t really any,” he said. “You don’t seem to have any of the nasty genes.”

There was silence on the line as I stared out the window at pigeons preening themselves in the fig tree in our backyard. I knew this wasn’t an absolute elimination of risk, and, of course, the test only covers 1,600 or so genes known to cause serious disease. Nonetheless, I felt giddy — and shocked.

After five minutes of chatting, he wished me well and we ended the call a little awkwardly. I sat at my desk in silence, my diary lying open in front of me. I’d blocked out an hour for the call and another hour to trawl through the printout of all the results he promised to send me immediately. I thought about how I had been so certain my entire life that I had inherited some scary genes, worried I would be passing them on to my children. I felt a sense of disbelief, but an even huger feeling of relief.

When I finally arrived at the Illumina summit last November, a couple of weeks after receiving the report about my genome, I was told that until then only 550 people in the world had the clinical interpretation of their entire DNA blueprint returned to them. And I was one of them.

I looked around the room. If the genome is our individual book of life, then the people there were its head publishers. Experts from various disciplines had come together to talk about the future possibilities of personalized medicine. Emblazoned on the wall of the main conference room was a sign announcing in bold letters “Innovation is in our DNA,” below which an unassuming urn rested on a table with a piece of cardboard propped against it, on which “Homemade apple cider and choc-chip cookies” had been scrawled in black felt pen.

“The future has arrived,” Ryan Taft, Illumina’s director of scientific research, told me.

What I truly felt, though, was that my future had only really begun that day, that I was unyoked from the heavy burden of the unknown.

Having my genome mapped hasn’t changed the fact that I still need to be vigilant about my health or that I’m terrified of dying. To be honest, it didn’t take long for a familiar voice in my head to start up its worried whispering again — it’s all well and good your genes look okay, but there’s no guarantee you won’t succumb to a virulent infection or fall out of the sky in an airplane.

But knowing my genetic blueprint has helped lessen the constant dread I have always felt about diseases potentially lurking in my DNA. Aside from that, it’s also helped ease my guilt about not volunteering to be a cadaver for medical students to carve up. Having my DNA blueprint analyzed is another way I can donate my body to science, without having to die first.