Harvard University cognitive scientist Steven Pinker reveals his genome (except for his APOE 4 allele status) in this Sunday's New York Times magazine and explains why it's not such a big deal. Pinker is one of ten leading scientists who is participating in Havard geneticist George Church's Personal Genome Project. These scientists have agreed to have their genes sequenced and then reveal what they find to researchers. Church's PGP wants to sign up 100,000 people who will do the same thing so that researchers can troll though the databases to find genetic linkages that enhance the probability of health and disease.
So what did Pinker reveal? That he has alleles that enable him to taste bitterness in broccoli and beer; fast-twitch genes that suggest he could be a sprinter; slightly less chance of prostate cancer; a slightly higher chance of type 2 diabetes. The point he wants to make is that personal genomic information is not toxic or occult or, at this early stage, even all that interesting. But it will be.
As Pinker writes:
Personal genomics is here to stay. The science will improve as efforts like the Personal Genome Project amass huge samples, the price of sequencing sinks and biologists come to a better understanding of what genes do and why they vary. People who have grown up with the democratization of information will not tolerate paternalistic regulations that keep them from their own genomes, and early adopters will explore how this new information can best be used to manage our health. There are risks of misunderstandings, but there are also risks in much of the flimflam we tolerate in alternative medicine, and in the hunches and folklore that many doctors prefer to evidence-based medicine. And besides, personal genomics is just too much fun….
Many of the dystopian fears raised by personal genomics are simply out of touch with the complex and probabilistic nature of genes. Forget about the hyperparents who want to implant math genes in their unborn children, the "Gattaca" corporations that scan people's DNA to assign them to castes, the employers or suitors who hack into your genome to find out what kind of worker or spouse you'd make. Let them try; they'd be wasting their time.
The real-life examples are almost as futile. When the connection between the ACTN3 gene and muscle type was discovered, parents and coaches started swabbing the cheeks of children so they could steer the ones with the fast-twitch variant into sprinting and football. Carl Foster, one of the scientists who uncovered the association, had a better idea: "Just line them up with their classmates for a race and see which ones are the fastest." Good advice. The test for a gene can identify one of the contributors to a trait. A measurement of the trait itself will identify all of them: the other genes (many or few, discovered or undiscovered, understood or not understood), the way they interact, the effects of the environment and the child's unique history of developmental quirks….
So if you are bitten by scientific or personal curiosity and can think in probabilities, by all means enjoy the fruits of personal genomics. But if you want to know whether you are at risk for high cholesterol, have your cholesterol measured; if you want to know whether you are good at math, take a math test. And if you really want to know yourself (and this will be the test of how much you do), consider the suggestion of François La Rochefoucauld: "Our enemies' opinion of us comes closer to the truth than our own."
Pinker has asked not be told what APOE alleles he has. As he explains:
Nearly a quarter of the population carries one copy of the E4 variant, which triples their risk of developing Alzheimer's disease. Two percent of people carry two copies of the gene (one from each parent), which increases their risk fifteenfold. James Watson, who with Francis Crick discovered the structure of DNA and who was one of the first two humans to have his genome sequenced, asked not to see which variant he had….
I figured that my current burden of existential dread is just about right, so I followed Watson's lead and asked for a line-item veto of my APOE gene information when the P.G.P. sequencer gets to it.
For my part, that is precisely the kind of genetic information that I would want to know. Of course, as I have argued elsewhere, I would want to know that exact day I am going to die if I could.
Disclosure: I have applied to join the Personal Genome Project, but haven't heard back yet.