Genomics Gets Personal

November 30, 2010

 

Human genetics tends to generate big data sets and equally big names. No other field except astrophysics has quite so many celebrities, researchers who are known around the world even to people who don’t follow science: James Watson, Francis Collins, Craig Venter. What’s the first image that comes to mind when you think about the Human Genome Project? Maybe it’s a double helix or a chromosome, but chances are good that instead it’s a photo of Collins and Venter announcing that they had finished the project’s first draft, grinning for the flashbulbs at an international press conference broadcast from the White House.

In the decade since that accomplishment, a new group of molecular biology rock stars has arisen, and many of them are linked in one way or another with the Personal Genome Project. If you like the rock-star analogy, you can even think of the PGP as an all-star concert and Here Is a Human Being: At the Dawn of Personal Genomics (HarperCollins)—a new book by Misha Angrist, an assistant professor at the Duke Institute for Genome Sciences & Policy—as a backstage pass.

Angrist is the fourth subject in the PGP to have his genome completely sequenced and published on the Internet. The book is partly a memoir of this experience. Angrist was well-prepared, intellectually, to explore his own DNA: He had earned a Ph.D. studying the genetics of a rare disease and had a nephew who, in a cruel stroke of irony, was born with the same illness.

But even for Angrist, getting sequenced raised a lot of unexpected questions. Would what he learned be medically useful to him or his family? Would it put him in danger of losing his health or life insurance? Researchers (including some at Duke) had discovered a few genes that put people at dramatically higher risk of conditions that can’t be treated, such as Alzheimer’s disease. Would he want to find out if he carried those genes, or would he be better off not knowing? Here Is a Human Being shows how Angrist ended up answering those questions, at least for himself. “The lesson I failed to heed, of course, is to be careful what you wish for,” he writes.

The book, however, also looks outward, bringing together the science of DNA sequencing and the stories of how people are incorporating it into modern life. Here, for example, is a sentence from chapter nine: “Loeys-Dietz patients had mutations in a gene in the same biochemical pathway that causes Marfan syndrome, the transforming growth factor beta (TGF beta) pathway.” This isn’t necessarily very interesting out of context (unless you’re a scientist or a patient), but in the book, Angrist uses it to tell the moving story of Hugh Rienhoff, who is hunting for the cause of a rare, debilitating disease that affects his six-year-old daughter.

There’s also plenty about George Church ’75, the Harvard biochemist and geneticist who is the brain behind the PGP. The book will tell you plenty about the DNA-analysis technologies that Church and others have invented. But it will also tell you that when Church was seven months old, his rather offbeat father strapped him to a small chair, fastened the chair to a tabletop, tethered the tabletop to the back of a boat, and took him “waterskiing.”(Church, characteristically, finds the story more amusing than alarming: He has a framed photo of the episode sitting on a table in his house.)

Successfully combining highly technical science—generally a combination of biochemistry and computer-powered math—with resonant personal stories is a challenge. Perhaps Angrist’s former work as a genetic counselor has given him the necessary tools. Or maybe the key is that unlike some scientific celebrities, he seems like a regular, approachable guy. On page two of Here Is a Human Being, he admits to having a potbelly, “probably a sign of insulin resistance and determined by genes acting in concert with ice cream.”