Categorization of humans in biomedical research: genes, race and disease
Neil Risch,1,2 Esteban Burchard,3 Elad Ziv,3 and Hua Tang4
A debate has arisen regarding the validity of racial/ethnic categories for biomedical and genetic research. Some claim ‘no biological basis for race’ while others advocate a ‘race-neutral’ approach, using genetic clustering rather than self-identified ethnicity for human genetic categorization. We provide an epidemiologicperspective on the issue of human categorization in biomedical and genetic research that strongly supports the continued use of self-identified race and ethnicity.
A major discussion has arisen recently regarding optimalstrategies for categorizing humans, especially in the United States, for the purpose of biomedical research, both etiologic and pharmaceutical. Clearly it is important to know whether particular individuals within the population are more susceptible to particular diseases or most likely to benefit from certain therapeutic interventions. The focus of the dialogue has been the relative merit of the concept of ‘race’ or ‘ethnicity’, especially from the genetic perspective. For example, a recent editorialin the New England Journal of Medicine  claimed that “race is biologically meaningless” and warned that “instruction in medicalgenetics should emphasize the fallacy of race as a scientific concept and the dangers inherent in practicing race-based medicine.” In support of this perspective, a recent article in Nature Genetics  purported to find that “commonly used ethnic labels are both insufficient and inaccurate representations of inferred genetic clusters.” Furthermore, a supporting editorial in the same issue  concluded that “population clusters identified by genotype analysis seem to be more informative than those identified by skin color or self-declaration of ‘race’.” These conclusions seem consistent with the claim that “there is no biological basis for ‘race'”  and that “the myth of major genetic differences across ‘races’ is nonetheless worth dismissing with genetic evidence” . Of course, the use of the term “major” leaves the door open for possible differences but a priorilimits any potential significance of such differences.
In our view, much of this discussion does not derive from an objective scientific perspective. This is understandable, given both historic and current inequities based on perceived racial or ethnic identities, both in the US and around the world, and the resulting sensitivities in such debates. Nonetheless, we demonstrate here that from both an objective and scientific (genetic and epidemiologic) perspective there is great validity in racial/ethnic self-categorizations, both from the research and public policy points of view.
An interesting read, one that rather disproves the idea that genetics proves race is a social construct. but the real interesting bit to me was..
For example, east African groups, such as Ethiopians and Somalis, have great genetic resemblance to Caucasians and are clearly intermediate between sub-Saharan Africans and Caucasians . The existence of such intermediate groups should not, however, overshadow the fact that the greatest genetic structure that exists in the human population occurs at the racial level.
Most recently, Wilson et al.  studied 354 individuals from 8 populations deriving from Africa (Bantus, Afro-Caribbeans and Ethiopians), Europe/Mideast (Norwegians, Ashkenazi Jews and Armenians), Asia (Chinese) and Pacific Islands (Papua New Guineans). Their study was based on cluster analysis using 39 microsatellite loci. Consistent with previous studies, they obtained evidence of four clusters representing the major continental(racial) divisions described above as African, Caucasian, Asian, and Pacific Islander. The one population in their analysis that was seemingly not clearly classified on continental grounds was the Ethiopians, who clustered more into the Caucasian group. But it is known that African populations with close contact with Middle East populations, including Ethiopians and North Africans, have had significant admixture from Middle Eastern (Caucasian) groups, and are thus more closely related to Caucasians .
… because I’m interested in Ethiopian DNA. Which backs up the use of the Mt DNA/Y DNA as genetic markers to measure racial admixture in populations, showing Ethiopians to be almost half Arab, essentially.
If anyone is suspicious of Dr Risch’s motives, he makes quite clear that his main concern is that a race/colour blind approach to medicine is that minority health-care will suffer.
Thus, results from such studies would be largely derived from the Caucasian majority, with obtained parameter estimates that might not apply to the groups with minority representation.
And quite right too. I had an accusation of a neo-Nazi eugenics motive thrown at a study of racial differences in gestation length who’s sole purpose was to lower the mortality rate of black and Asian babies in the UK.
Recognising racial differences saves lives.