Relatively few legal cases have discussed the newly emergent field of genomics, but there is no shortage of discussion on the subject. In the January 11, 2009, issue of The New York Times Magazine, Dr. Stephen Pinker, of Harvard, who had his genome sequenced, made a number of observations that are worth reflecting upon, as the science begins to merge with the law.
The first thing that jumped out, from Dr. Pinker’s observations, is that there are some things you just don’t want to know. For example, some people whose genomes are sequenced choose not to know whether they carry the gene for Huntington’s disease. (If you have it, you will develop Huntington’s disease.) Genetic privacy concerns have certainly been the subject of some litigation. The case of Havasupai Tribe of the Havasupai Reservation v. Arizona Board of Regents, 2008 WL 5047641 (Ariz. App. Div. 1), previously discussed here, is an example. There, certain members of the Indian tribe that lives on the floor of the Grand Canyon, the Havasupai, had given blood to Arizona State University researchers, so it could be tested for certain genetic traits, dealing with diabetes, with their consent, but they sued, among other reasons, because they alleged their blood had been used to look for other genetic information, without their consent.
The second interesting observation from the Pinker article was his comment that “individual genes are just not very informative.” The example he used was height, which, though affected to some extent by nutrition and health status, is primarily genetically determined. Dr. Pinker pointed out that there are more than a dozen genes that have some role in coding for height. However, “these genes collectively accounted for just 2 percent of the variation in height, and a person who had most of the genes was barely an inch taller, on average, than a person who had few of them.” Now, height is objectively measurable, but so is a disease endpoint like cancer, or lupus or a heart attack. If an environmental containment could be shown to have an adverse effect on one of [an assumed] dozen or more genes that had a role in the development of a particular cancer, and all of those genetic changes, collectively, accounted for no more than 3% or 4% of the cancers of that type, what would the legal significance of the adverse effect on that one gene be?
Third, one of the interesting observations Dr. Pinker made was some of the genetic predictions are just flat wrong. In Dr. Pinker’s case, though he has a full head of hair, his genetic profile predicts a high risk of baldness. As. Dr. Pinker said “something strange happens when you take a number representing the proportion of people in a sample [who have a particular trait] and apply it to a single individual . . . Some mathematicians say that “’the probability of a single event [in an individual]’ is a meaningless concept.” So, for example, even in identical twins, one may develop a particular condition or have a certain trait, and the other one may not. As. Dr. Pinker said “[p]erhaps people are shaped by modifications in genes that take place after conception, or . . . by the wiring of the brain or by the expression of the genes themselves.”
Finally, Dr. Pinker made the observation that, “apart from carrier screening, personal genomics will be more recreational then diagnostic for some time to come.” It turns out, not surprisingly, that the currently available genotyping doesn’t actually sequence your entire genome, but, as Dr. Pinker put it “follows[s] the time-honored scientific practice of looking for one’s keys under the lamppost because that is where the light is best.” It turns out that what these services look for is single nucleotide polymorphisms (SNPs), or the half a million or so places on the genome where a single nucleotide is apt to vary, from individual to individual. This method does not ordinarily capture missing DNA, or DNA that is inserted, or duplicated, or has other abnormalities. These variations may have significant consequences, too. And often, as the case with height, multiple genes are going to have an impact on an endpoint.
So, though Dr. Pinker says “personal genomics is here to stay,” he also says “many of the dystopian fears raised by personal genomics. . . are simply out of touch with the complex and probabilistic nature of genes.” To that, another observation can be added: hopes for genomics as an individual causation problem solver in litigation “are simply out of touch with the complex and probabilistic nature of genes” – at least for the foreseeable future.