Taking race out of human genetics
Abstract
In the wake of the sequencing of the human genome in the early 2000s, genome pioneers and social scientists alike called for an end to the use of race as a variable in genetic research (1, 2). Unfortunately, by some measures, the use of race as a biological category has increased in the postgenomic age (3). Although inconsistent definition and use has been a chief problem with the race concept, it has historically been used as a taxonomic categorization based on common hereditary traits (such as skin color) to elucidate the relationship between our ancestry and our genes. We believe the use of biological concepts of race in human genetic research—so disputed and so mired in confusion—is problematic at best and harmful at worst. It is time for biologists to find a better way.
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Information & Authors
Information
Published In
Science
Volume 351 • Issue 6273 • 5 February 2016
Pages: 564 - 565
Copyright
Copyright © 2016, American Association for the Advancement of Science.
Acknowledgments
All authors contributed equally to the conceptualization of this paper. M.Y. wrote the first draft and revised it based on comments from coauthors. Special thanks to E. Arana for research assistance.
RE: An Alternative to the Concept of Race
I congratulate Yuddel and colleagues (Yuddell et. al. 2016) for their timely commentary, questioning the utility of race in biology and medicine, as well as their call to adopt a paradigm shift in our thinking on the utility of the race concept in contemporary human societies. Continued research on human diversity, using a battery of molecular markers, ranging from protein markers to sequencing, has repeatedly shown that much of human diversity for any quantitative trait is distributed among individuals. In humans, among population level variation often reduces to negligible levels, due to their diverse mating systems, and evolutionary history of each of the component population(s). The Presidential mandate for precision medicine, also emphasizes the need for focusing on specific individuals and families. Individuals and families harbor the highest degree of genetic information on ancestry and proximal identity of alleles by descent. Furthermore, the most useful measure of a population - the effective population size - in humans hovers around 10,000, and twice the effective population size is a useful measure to quantify response to selection (Robertson 1960). Accordingly, a redirected focus on individual, family and local (ecological) population composed of about 20-25000 is perhaps a more useful way to define a "genetic population," on the basis of close genetic ancestries, and identities, rather than the defunct "race" concept, as the latter involves continental and transcontinental levels of diversity.
Yudell, M., Roberts, D., DeSalle,R. and Tishkoff, S. (2016). Taking race out of human genetics. 351, Issue 6273: 564-565
Robertson, A. (1960). A theory of limits in artificial selection. Proc. Roy. Soc. London B, 153:234–249.
RE: Taking race out of human genetics
This discussion goes way beyond medical research. Several years ago I posited that we need a new identity system in the US and the world for all purposes (legal, research, psychological, political, etc.), a tripartite identity system which I have detailed here: https://m.facebook.com/story.php?story_fbid=754352864637382&id=380724405... The gist of this is to include paternal and maternal genetic ancestry, cultural choice, and nationality in the categorization. I don't think ignoring the genetic components of identity is the answer any more than simply eliminating the 'n' or 'k' or 'd' or 'm' or 'c' or 's' or 'w' words from the vocabulary does away with bias.
RE: same is true for "species".
This is not restricted to race. Same is valid for the term "species", which is equally arbitrary based on modern genetics.
RE: Yudell et al
Yudell et al. (Science 352:564) correctly point out that "the use of biological concepts of race in human genetic research … is problematic at best and harmful at worst." It is clear that common concepts of "race" have been misused in ways that can create real harm, and do not accurately reflect genetic ancestry. The genetic background is far better served by SNP-derived ancestry. I fully agree with their proposal to substitute "ancestry" or "population" or perhaps "ethnicity" for the inaccurate and misused term "race." It should be kept in mind, however, that self-described ethnicity may carry relevant sociological and environmental information not captured by genetic ancestry, yet potentially relevant to many complex diseases.