The Human Genome Project turned 10 this year. In the decade since scientists first published our genetic blueprint, huge strides have been made in understanding the biological basis of inherited disease, the history of humankind and the role that genetics can play in modern medicine.
The genetic map also created a new industry of personalized genomics. Hundreds of early adopters have already decoded all 3 billion letters of their own DNA, and, thanks to advances in technology, the number of people with full genome sequences is expected to rise dramatically in the next few years.
To find out what having a genome sequence can mean for one’s health and personal sense of Judaism, The Forward asked Jewish scientists with fully sequenced genomes to share the lessons they’ve learned from their own DNA. Here is what they said:
Steven Pinker: Tribal Stirring
My mitochondrial DNA is specific to Ashkenazim, and similar to ones found in Sephardic and Oriental Jews and in Druze and Kurds. My Y-chromosome is also Levantine, common among Jews and sprinkled across the eastern Mediterranean. Even this secular Jew experienced a primitive tribal stirring in learning this deep genealogy. On the other hand, these markers do not literally tell you about “your ancestry,” but only half of your ancestry from a generation ago, a quarter from two generations ago, and so on. The further back you go, the more ancestors you have, and the very concept of personal ancestry becomes meaningless. I found it just as thrilling to zoom outward on the diagram and see my place in a family tree that embraces all of humanity.
I also turn out to be a carrier for one of the Ashkenazi recessive disease genes, familial dysautonomia. A child with two copies has a malfunctioning autonomic nervous system, which sentences him to a miserable childhood and a premature death. My wife, the novelist and philosopher Rebecca Goldstein, turns out to be a carrier as well. It’s pleasing to think we are distantly related. It also allows us to shut the door on whatever wistfulness we have about having met too late in life to have had children together. The gene was only recently discovered, so the road not taken could have led to tragedy.
Steven Pinker is a professor of psychology at Harvard University and author of the forthcoming book “The Better Angels of Our Nature: Why Violence Has Declined.”
Misha Angrist: Genetic Solace
Having my genome sequenced has had a subtle but profound impact on my relationship with my family. Learning my genetic code was an occasion to have a conversation with my parents, and, to some extent, my kids about our family history, what traits run in our family and to what extent those are likely to be genetic. (But obviously one needn’t get sequenced in order to have those discussions!)
Of greatest concern to me was breast cancer. My mother was diagnosed with early-onset breast cancer (she is alive and well today, Baruch haShem), and, thus, there’s a decent chance that she carries one of the “Jewish” mutations that predisposes her to hereditary breast and ovarian cancer. If that were true, then I could have transmitted that mutation to my daughters. But, having had my genome inspected by a breast cancer geneticist, I am fairly certain that my daughters’ risk for developing breast and ovarian cancer is no higher than average (although “average” is still way too high).
I suspect my story will turn out to be fairly typical. We all carry mutations in our genomes, but whether they manifest themselves at any time in our lives depends on a lot of things. My hope is that, as the price of personal genomics continues to fall and more people get involved, we will come to see this information neither as a crystal ball nor as some infallible window into the past. It is simply a rich source of data that can give us additional clues about ourselves and our families, whether it’s our ancestry or our health.
Misha Angrist is a writer and assistant professor at the Duke Institute for Genome Sciences & Policy. His first book, “Here Is a Human Being,” was published in November.
David Goldstein: Cultural Conduit
I sequenced my genome earlier this year for a new course Misha Angrist and I are teaching at Duke University called “The Past and Future of the Human Genome.” What better way to make clear that genomic self-awareness is coming to all than to spend the last day of class describing what is seen in the genomes of the professors?
Upon inspection, I didn’t find much of anything. Nothing obviously harmful — but nothing obviously helpful, either. This is perhaps no big surprise. Currently, we mainly only know how to interpret bad news in our DNA, and the older you are, the less likely it is that you will see anything noteworthy. So for now, and no doubt for some time to come, sequencing will be most informative in the young.
Not that there is nothing there for the middle-aged healthy fellow. I do carry certain gene variants that would be relevant to responses to certain drugs — such as those used to treat hepatitis C and HIV — which, fortunately, I am unlikely to ever need. Over time, I would expect many more variants to be identified that could be relevant to drugs that I might someday use. It’s comforting to know that my genome is handy in case I ever want to consult it for such purposes.
Then, of course, there is ancestry. As someone carrying a passport reading “David Benjamin Goldstein,” my father’s cultural context is pretty obvious. Looking under my genomic hood, sure enough, there is a Y chromosome there that not only appears to be characteristic of the Near East — it in fact matches the very one my colleagues and I described some time ago as the one shared by kohanim of the Jewish priesthood. As silly as a professional geneticist may know it to be, it is somehow gratifying to think I have been a conduit through which ancient Israelites passed a Y chromosome through to my son, a small boy now playing in the streets of Chapel Hill, N.C. That chromosome has certainly been around the block.
David B. Goldstein is director of the Center for Human Genome Variation at Duke University Medical School and author of “Jacob’s Legacy: A Genetic View of Jewish History.”