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In my opinion

Discussing our (genetic) differences

A new emphasis in science on the study of genetic variation is raising old issues of race

BY TIMOTHY CAULFIELD | APR 06 2009

Not long ago I was speaking at a genetics conference. I got a t-shirt as a gift that declared, in bright block letters, that I was 99.9 percent identical to Einstein. Given the clear gulf between the dead physicist’s intellectual capacities and my own – likely confirmed for the audience by my speech – this was obviously one of those science jokes meant to be slightly more hilarious for those in the “scientific know.” It was a riff on the now standard genetic and “We Are the World” message about the homogeneity of the human species. We are all pretty darn similar from the perspective of our genes.

In fact, this was one of the key messages that emerged from the Human Genome Project. The sequencing of the human genome allowed for a confirmation of the 99.9 percent stat, thus lifting this scientific tidbit to the level of social truism and t-shirt slogan.

But over the past few years a new message has come from the genetics community. The theme of sameness is competing with the theme of difference. This is because the study of human variation has become a primary focus for researchers throughout the world. In 2007, for example, Science picked the study of genetic variation as the breakthrough of the year.

This new emphasis on genetic differences has re-introduced difficult questions about how we, as a society, describe and talk about genetic variation. This is most especially so in the context of the controversial and divisive notion of “race.”

Why the shift from similarity to variation? Scientists are employing a variety of methodologies to tease out the unique genetic factors that contribute to the development of human traits and disease. These efforts include massive biobanking initiatives (such as U.K. Biobank, a project that will eventually include half a million participants), the sequencing of thousands of individuals’ entire genomes (a strategy being employed by the U.S. National Institutes of Health), and studies of specific and relatively discrete populations. We are all very genetically similar, but it is our tiny differences that may contribute (in a very complex way) to things like the distribution of disease, how we react to drugs and how we metabolize food.

While few would suggest that this work is not interesting and valuable, there is mounting concern about how the resulting conclusions are presented, the populations under study described, and the research translated into marketable products.

The heart of the concern is that all this work will inadvertently reify concepts of population difference and, most worrisome, give scientific legitimacy to the notion of race and to racist ideas. Research on genetic variation may disclose that members of particular communities and populations are more likely to have certain genetic variants. However, these variations rarely, if ever, fit neatly within the social constructs of race – particularly those broad categories introduced by European biologists in the 1700s: black, white and Asian.

Unfortunately, we have been grouping humans into these kinds of broad categories for an awfully long time. These categories of race are socially entrenched. As a result, there is an understandable, but regrettable, tendency to see all population difference as racial difference and to greatly simplify a tremendously complex story of genetic variation to fit into our socially constructed categories.

To cite just one example, a recent study examined the ways in which genetic variation can impact how different populations respond to drugs and fight infections. The academic report of the study makes no mention of “race,” “Caucasians” or racial difference. On the contrary, the paper uses very specific geographic regions, including individuals of “European ancestry from Utah” and “Yoruba individuals from Ibadan, Nigeria.” However, a media story about the study talked about the genetic differences between the two “races.”

But we can’t just blame the media. A variety of researchers have found that this simplification process also happens in the peer-reviewed literature, in the press releases from the research institutions, in the relevant blogs and in the marketing of genetic products and services.

Let’s be clear, the objection is not an exercise in political correctness. It is not some attempt to suppress an uncomfortable truth. On the contrary, the concern is that the research is being misinterpreted or conducted and reported with less than ideal precision. As noted by Stanford’s Sandra Soo-Jin Lee, this trend is not just scientifically misleading, rather, the “conflation of race with genetics opens the door to prejudice, racial stereotyping, and overly simplistic conceptualization of [health outcomes and drug] interactions, which could ultimately lead to poor health outcomes.”

Everyone involved in the communication of this work – including researchers, university public relations offices, reporters and teachers – must strive to be more precise in their communication.

There are massive differences between the attributes of Albert Einstein and myself, but we do not belong to different “races.” The message on the t-shirt remains true. As they say, clichés are often clichés for a reason.

Timothy Caulfield holds the Canada Research Chair in Health Law and Policy and is research director of the Health Law Institute at the University of Alberta.

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