01/05/2015 01:54 pm ET Updated Mar 07, 2015

Pharmacogenomics and the Biology of Race

The numerous and impassioned responses to Nicholas Wade's recently published Troublesome Inheritance: Genes, Race and Human History have once again reminded us of the complexity, ambiguity and perils of writing about the biology of race. In the US one is reminded of the collective sins of our past, including the eugenics movement of the early twentieth century, whereby a disproportionate percentage of people of color and those from lower socio-economic classes were sterilized, and the Tuskegee Study conducted between 1932 and 1972 in which 600 African-American sharecroppers in rural Alabama were purposely not treated for syphilis in order to ascertain information on the long-term effects of the disease. More recently, debates about the biology of race have raged among certain academic circles. While biologists will tell you that humans (other than identical twins, triplets, etc.) do differ from one another genetically -- i.e. at the level of the DNA, they will also admit that the difference is rather small. And many (but certainly not all) are loath to label populations, which share the same genetic alleles (or different versions of a gene) as "races." It turns out there are numerous ways in which one can understand human diversity, including geographic ancestry or responses to environmental selection factors. Sickle cell anemia is a case in point. Identified over a century ago, it was originally thought to be limited to "the Negro race." As time went on, people from parts of Italy, Greece, Iran, India, and in other diverse locations were identified with the disease. Population biologists then realized that being heterozygous for the sickle cell trait, i.e. possessing one normal copy of the gene and one copy of the sickle cell allele, granted its owner immunity to malaria. That is to say, sickle cell anemia is better understood as a disease in response to a particular environment than a trait of a particular race. Tay-Sachs, or the so-called "Jewish disease," is now found much more abundantly in those who do not identify themselves as Jews than in those who do.

So why then is race the privileged category used by biomedical researchers in understanding human diversity? There are four sets of institutions that have used race as the primary signify of difference, albeit for very different reasons, the National Institutes of Health (NIH), the Food and Drug Administration (FDA), Big Pharma, and personal genomics companies. Back in the 1980s the NIH became concerned with the paucity of information on women and people of color afflicted with certain diseases, particularly HIV/AIDS. As a result, Congress passed the Revitalization Act in 1993, which requires biomedical researchers funded by the NIH to include women and people of color in diagnostic and therapeutic research. Similarly, the FDA requires tests on a drug's efficacy and safety on women and people of color before offering approval. As Steven Epstein has argued in his seminal study, Inclusion (University of Chicago Press, 2007), these federal institutions wish to include more groups in order to assist medically those who have been historically marginalized.

Big Pharma, while initially protesting what it saw as the unwarranted meddling of the government in the affairs of private companies, eventually embraced the move. They quickly realized that race creates markets, as Dorothy Roberts has argued in Fatal Invention (New Press, 2011). In 1996 the US became the second nation (after New Zealand) to permit direct-to-consumer advertising; Big Pharma began to market some of their drugs as race-based, including BiDil, used to treat African Americans with a history of heart attacks and Amaryl, which is used to treat type 2 diabetes in Mexican Americans. Many biomedical researchers have challenged the claims that these medications are more efficacious in one race than in the others.

Similarly, personal genomics companies, such as 23andMe, deCODEme, and Pathway Genomics, offer their clients a glimpse into their genealogical past and their medical future. Americans wishing to know the origins of their ancestries send a swab of their cheek epithelial cells to these companies. Before the FDA began cracking down on some of the firms for offering unsubstantiated medical information based on the presence of certain SNPs (or single nucleotide polymorphisms, a variation of DNA at one nucleotide that can be used as a genetic marker for a particular disease), those wishing to play a more active role in their health could inform their physicians about potential health hazards down the road. "Be your own expert!" was the charge. Do not passively listen to your doctor: actively obtain as much information as you can. It seems so (neo)liberal. Unfortunately, such a stance plays into the hands of Big Pharma and personal genomics companies, which are more than happy to assist you for a fee.

In short, personalized medicine and pharmacogenomics, or medical treatment catered to an individual's genome, seem to be the future of medicine. And they are being supported by major institutions with very different goals and intentions. Note an interesting contradiction: pharmacogenomics, which is supported by Big Pharma, is about the individual. In all honesty, I cannot imagine that pharmaceutical companies will develop drugs specifically tailored to each individual: that would clearly not be in their financial interest. Rather, dividing humanity into racial groupings, pharmaceutical companies come across as caring about specific characteristics to which a group of individuals can relate and with which they closely identify. All of this results in the commodification and reification of race. Numerous sociologists and anthropologists of medicine as well as a number of biomedical researchers have warned that such a move will result in ignoring the most significant problem, which has historically plagued the US, namely the unequal access to health care based on socio-economic status.