Overcoming Genophobia

DNA in a test tube is prosaic: the "stuff of life" looks a lot like what emerges from a child's runny nose. But there has long been something taboo in that tube.

When I was a grad student and postdoc in the 1990s we kept genetic information at arm's length. You didn't look at someone's DNA unless you suspected there was something wrong with him or unless he was a donor-cog in the Human Genome Project, which decoded a composite genome derived from multiple anonymous people. In those days you certainly never looked at your own genome, even a small piece of it.

So in 2006, when I read about Harvard geneticist George Church and his plan to decode the genomes of ordinary, healthy people, to let them see their own genomes, and to not even try to keep their identities secret, I was intrigued. I wrote him and asked if I could come up to Harvard and follow him around and could I possibly be among the first ten people in his pilot project to sequence ordinary human genomes. He immediately said yes to the former and eventually agreed to the latter. And he became the focal point of my book: the story of an iconoclast who once posted his social security number on the Web. And a guy who, like me, believes the time has come for genetics to shake off its century-old reputation as a medical backwater at best and a tool for fascist social engineering at worst.

I'm not naive nor am I calling for us to treat our DNA in a cavalier fashion. Too much of the forensic DNA work that has gone on in the US in recent years, for example, has been tarnished by secretive and sometimes shoddy laboratory procedures. Until recently, the US military practiced genetic discrimination by declining to pay for the treatment of some soldiers' hereditary diseases because they were "preexisting." And last year authorities in the United Kingdom talked about using DNA to screen would-be immigrants. These are shameful practices and to prevent/curtail them will require vigilance.

What it will not require are fear and ignorance. In promoting the book these past few months I have appeared at events and on radio programs with bioethicists who continue to sing from the same tired hymnal. They use words like "dangerous," "scary," "horrible" and "terrifying." To them, genes = fear. The desire of a person untrained in genetics to have access to her genetic information somehow implies that she is irrational, ignorant and/or irresponsible.

Call me irresponsible.

For decades one of the things that gave the eugenicists their power was the asymmetry between what they "knew" and what the rest of the populace did...or did not. Today the science, while not without its problems, is peer-reviewed and broadly disseminated, and the cost of genomic technology is no longer the huge bottleneck it once was. Indeed it's getting cheaper all the time. In my book I describe a young woman who constructed a laboratory in her bedroom closet with a few hundred bucks' worth of stuff she bought on eBay and used it to help determine her genetic risk for the blood disorder hemochromatosis. Community labs are springing up all over the world. Companies such as 23andMe sell information on a small subset of genetic markers for a few hundred dollars. This intrusion of filthy lucre makes some people uncomfortable, but consumer genomics is not the only option for the curious. Research efforts like The Personal Genome Project and ClinSeq share some or all of what they learn with participants.

Whether these initiatives lead to faster cures or diagnostic tests remains to be seen. I suspect they will, but in the near term, that's not really the point. The point is that they will inevitably help to lift the shroud that has enveloped human heredity in the public consciousness. Genetics requires a bit of probabilistic thinking, but it ain't particle physics. Elementary schoolers can grasp many of the basic concepts and, I would argue, they should.

Some people will remain squeamish, apprehensive or otherwise uninterested in their own genomes. That is their right: I would not presume to judge them, let alone force them to look at their DNA. But chances are good that their grandchildren or great-grandchildren will have their entire genomes sequenced at birth. If we want that to happen in a way that leaves those kids neither mystified nor stigmatized, then the rhetoric of fear does none of us any favors.