Posted: June 18, 2010 

"Reports of My Death Have Been Greatly Exaggerated": Race and Genetics Ten Years After the Human Genome Project
Ten years ago this month, we were definitively told that race is scientifically invalid, supposedly ending centuries of debate over the social versus biological character of racial categories. At the high profile announcement that a draft sequence of the human genome had been completed, President Clinton said "one of the great truths to emerge from this triumphant expedition inside the human genome is that in genetic terms all human beings, regardless of race, are more than 99.9% the same."

While subsequent research has slightly lowered this initial estimate to around 99.5%, much of the excitement around the Human Genome Project's (HGP) June 2000 announcement focused on this seemingly conclusive finding that social categories of race, as a coherent way of understanding biological differences between human groups, are largely meaningless.

This wasn't the Project's initial goal, which was seen as a landmark scientific achievement akin to landing on the moon. By mapping the complete set of DNA containing the "blueprint" for human life, the Project's intended significance laid in what many thought would be its revolutionary implications for human health: diagnosing and treating disease with greater precision and laying the groundwork for personalized medicines. But, as NIH Director Francis Collins recently wrote in Nature, "it is fair to say that the Human Genome Project has not yet directly affected the health care of most individuals."

In light of these highly anticipated yet largely unfulfilled clinical benefits, this one seemingly conclusive finding regarding the biological insignificance of race was supposed to have put the final nail in the race-as-biology coffin. Given the remarkable cruelty and injustice linked to the idea that racial differences and disparities reflect inherent biological differences, this finding was highly celebrated among scholars, politicians, and many others. Standing alongside the Project's lead researchers 10 years ago, President Clinton also noted, "modern science has confirmed [that] . . .the most important fact of life on this earth is our common humanity." With this less-than-flattering eulogy, one would expect that genetic researchers themselves would have taken the lead in preparing the body, carrying the casket, and driving the hearse to the burial site.

But, there seems to have been a detour on the way to the funeral: rather than moving away from using race to understand human genetic difference, several research projects began mapping social understandings of race onto this less than 1% of human difference. Like Lazarus, race quickly came back from the dead; the very science that was thought to lead to its demise has instead given it new life under the guise of modern genetics.

How did this happen?

This resurrection was not entirely unfounded. The less than 1% of human variation identified by HGP researchers reflects millions of single nucleotide polymorphisms, or small individual differences in DNA that may loosely correlate with geography. Moreover, comparisons with the chimpanzee genome shows that it is 96% similar to humans', suggesting that important group and individual differences may be rooted in relatively small variations. Yet this far from explains the resilience with which researchers continue to link folk notions of race to genetics - especially when much of the research that we do have continues to caution otherwise.

The short of the story is that racial thinking is a hard habit to break; residual notions of race can lead otherwise well-intentioned researchers to create the very difference they seek to find. This can be seen through at least three developments in the post HGP era.

First, race based medicine hit the scene with the FDA's June 2005 approval of BiDil -- the first drug to be labeled by regulators to treat a specific racial group: Blacks suffering from heart failure. BiDil quickly became the poster child for personalized therapies in the post HGP era; it was thought that racial disparities in health (in this case, heart failure mortality) could be reduced by targeting the specific biological mechanisms that give rise to minorities' disproportionately poor outcomes.

What's curious about BiDil's FDA approval is that its manufacturer did not provide any genetic data to support its claim that BiDil works differently in Blacks. Rather, BiDil's approval was based upon a clinical trial that showed remarkable results -- a 43% reduction in heart failure mortality -- yet only enrolled individuals that self-identified as African-American. But without a comparison group, it's difficult to say whether the drug works better in any one race. Indeed, cardiologist Jay Cohn, who developed BiDil, openly admits that he routinely prescribes the drug to Whites.

These and other details did not disrupt the direct link regulators made between race, genetics, and health outcomes. The chair of the FDA committee that recommended BiDil's approval stated that they took self-identified race in the clinical trial "as a surrogate for genomic based medicine." That is, an assumption without much evidence.

At the same time, genetic ancestry tests have taken off in the past decade as a way to give people a better understanding of their racial and ethnic background. Companies that sell them often make fantastic claims about genetics' ability to identify consumers' ancestors going back thousands of years -- which can inform their racial and ethnic identities. But these claims are far less significant than they are portrayed since companies only examine less than 0.1% of individuals' DNA.

The reference samples that companies collect from around the globe are remarkably small; since few if any genetic variations are exclusive to any one population, the markers used by companies to define individuals' ancestral or racial identity may be misleading. This partially explains why consumers taking multiple tests from different companies can receive very different results.

Lastly, genetics is having a profound impact on race in the criminal justice system. While DNA forensics predates the HGP announcement, its expansion over the past decade has been astonishing. Beyond the civil liberties concerns connected with new policies such as including profiles from people arrested for but not convicted of crimes in DNA databases -- a practice that, combined with racially biased policing, leads to minorities' overrepresentation -- other practices are pushing the envelope in ways that give new credence to biological understandings of race.

Take molecular photofitting, a technique that uses genetic markers embedded in blood or other crime scene evidence to create low resolution images of unknown perpetrators that includes hair color, body size, height, and yes, race. To be sure, the 2004 patent application for the technique behind this approach states that it measures "the heritable component of race," a remarkable statement about race's biological salience -- an approach thought to have been discredited by the HGP just a few years earlier.

Promoters of these new applications typically reject the scientific racism driving past conversations on race and biology; resolving racial disparities in health, improving individuals' understanding of their genealogy, and assisting law enforcement are their laudable goals. Yet, their products and claims raise familiar concerns. Framing racial differences and disparities in largely genetic terms when the evidence for doing so is less than robust may lead us to miss the social and political practices that can more meaningfully explain the dynamics at play. And when we miss these complexities, we risk simplistically explaining these outcomes as a function of who people inherently "are" rather than the deeper influences connected to how we treat one another.

But what also unites these three developments concerning race and genetics a decade after the tolling of its death knell is the stunning lack of regulation concerning the questionable claims being made. The FDA has no special rules for new drugs seeking race specific labels beyond a narrow focus on safety and efficacy, genetic ancestry tests garner no special attention from regulators, and federal and state law enforcement agencies openly embrace new forensic techniques without much regard for their impact on racial minorities or social understandings of race. Allowing the market to push these issues without more meaningful oversight is no less unwise than allowing banks to regulate themselves.

Race and biology conversations need not be thoroughly killed; much good can come from having a richer understanding of how population differences impact social and health outcomes. But we do need to approach the issue with care, responsibility, and humility. This ten-year anniversary of the Human Genome Project is an opportunity to pause and think deeply before new technologies end up resurrecting a ghost from the past that may haunt us well into the next decade and beyond.

Osagie K. Obasogie is an Associate Professor of Law at the University of California, Hastings in San Francisco, a Visiting Scholar at the University of California, San Francisco, and a Senior Fellow at the Center for Genetics and Society in Berkeley. He is the author of Playing the Gene Card? A Report on Race and Human Biotechnology, available at