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Wednesday, December 20, 2006

Race and Personalized Medicine

Are drugs that seek to serve a specific population changing our concept of race?

By Emily Singer

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Last year, the U.S. Food and Drug Administration made the landmark decision to approve the first race-based drug. Clinical trials showed that Bidil, a combination drug treatment for heart failure, significantly improved survival rates in a group of self-reported black patients. While some applauded the move for focusing on an underserved population, others countered that race is a poor proxy for the genetic variation that likely underlies response to the drug. Sandra Soo-Jin Lee, a medical anthropologist at Stanford University, says the Bidil approval is just one example of how genetic research is shaping society's perception of race. She explains the trend in a paper appearing in the January issue of Clinical Pharmacology & Therapeutics and spoke this week with Technology Review.

Technology Review: Has genomic research changed our conception of race?

Sandra Soo-Jin Lee: We've been witnessing a pendulum switch. Previously, social and life scientists agreed race is best understood as a product of socioeconomic circumstances--who is included in one category as opposed to another is largely tied to the political history of groups over time. While there was a great deal of concurrence of race as a societal construction, now, with genomic technologies, there seems to be a rethinking of race as a biological phenomenon. In scientific research, researchers use race as a way of characterizing differences between groups.

TR: What role does race play in pharmacogenomics?

SL: Pharmacogenomics has really promised this idea of tailoring medicines to individuals, but we're not quite there yet. It's not cost-effective to sequence the genome of all individuals. In lieu of that, race becomes an easy proxy. It becomes a way of filtering individuals into populations that might have certain genetic variants.

Race also becomes an easy method for marketing a product. It is easily recognizable in terms of a specific market segment. It becomes attractive for companies to use that to segment the market and tailor products to specific markets.

TR: Previous research has shown that more genetic variation exists within race-based populations than between populations. Given that finding, is it ever appropriate to do race-based medical studies?


SL: That finding is very powerful--it does speak to the idea that race is not a good proxy for genetics. But I think race can be a valuable variable when looking at racism or inequalities in health care. I don't want to say that race doesn't exist. It does exist on a very visceral level for many people. But the point of this research is to disavow the idea that race is embedded in the genome and to get us away from thinking about racial biology.

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Comments

  • Race is biological/genetic
    gabrielg01 on 12/20/2006 at 3:06 PM
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    Wow, did you guys catch this?..."But the point of this research is to disavow the idea that race is embedded in the genome"...

    Unreal...can anyone get more unscientific than this? If race is not embedded in the genome, then where is it coming from? The stork decides what race the newborns will be?...

    Then they bring up a very old, fallacious argument: "more genetic variation exists within race-based populations than between populations"

    This statement in itself is true, yet the conclusion is completely wrong. The fact is that you can make the same comparison (and argument) not only with races, but with species, as well. More genetic variation could (and does) exist within species-based populations than between species. Yet no biologist in their right mind would conclude that species are just a social construct.

    The key of course, is not to cherry pick the results, like these quacks are doing. The variations across genes are not uniform. Some genes can have a lot of variability, without visibly impacting the phenotype. And some genes have very little variability.

    If you pick a bunch of genetic markers from the highly variable group that show no biological phenotype, then it's easy to see how one can come to the fake conclusion that genetics and race are not related.

    If our genome is 99% common to that of the chimpanzee, then we can easily imagine that the genomes of different human races are infinitesimally close. Maybe 99.99999% identical. And that would mean that race differences are contained in that 0.00001% genetic difference.

    Did these guys search for and compared genetic markers in the 0.00001% pool, or in the 99.99999% pool?

    Some common sense please!!!!
    Rate this comment: 12345
  • Threats to populations
    tcaruso on 12/21/2006 at 11:14 AM
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    I agree with the comments of Dr. Lee, especially her point about the use of race as a method of market differentiation, and in her clarity about how race is a personal experience that genetics will not affirm.  I would like to propose an alternative to race that anthropologists have been using: populations. 

    Populations can be defined based on the genes they have in common.  As has been shown, particular gene variants, for instance single nucleotide polymorphisms or SNPs, are widely distributed throughout the human population independent of skin color, facial traits, geography or some other artificial means of discriminating among humans.  In other words, any particular SNP can generally be found in multiple human groupings that have been inappropriately labeled as races.  One means of correctly identifying a specific population is as the set of all humans with that particular SNP.

    One threat is, as Dr. Lee expressed, that these populations will be generalized to fit particular artificial segments of the population, like race, primarily for purposes of marketing.  Companies find it a lot easier to promote their product to segments that have similar demographic characteristics.  But how do we focus on the population and not the segments of these populations?

    A second threat is that once we have identified SNP populations, companies, governments and individuals could then discriminate based on which SNP population an individual belongs.  Visualize that, without government regulation, a health insurance company that knew that a particular SNP increased the likelihood for Alzheimers disease, would either deny health insurance for individuals in this population, or charge much higher premiums for these individuals.  Gattaca, a recent movie about an individual in the future who falsifies information about their genetics, shows how this type of discrimination might develop. 

    In my opinion, both threats will be difficult to address as we learn more about the human genome and develop low cost means of characterizing our individual instances of the human genome.
    Rate this comment: 12345
    • Re: Threats to populations
      gabrielg01 on 12/21/2006 at 12:36 PM
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      You are misleading people by lumping all SNPs into one category, and then pulling a sweeping conclusion on it. Could we be more nuanced please?

      There are SNPs, and there are SNPs, and then there are even more SNPs...all different categories. Some SNPs have been linked to diseases, so they can be used as genetic markers, useful in healthcare. There are some race-linked SNPs as well. These can be used in forensic analyses.
      But the vast majority of SNPs have no bearing whatsoever on the diversity of our phenotype. These are part of the 99.99999% common genome that we all share.

      And by the way, the movie GATTACA was released in 1997. It's almost 2007 now, so I wouldn't call that movie "recent". Nevertheless, the message of the movie on the dangers of genetic discrimination is very important.
      Rate this comment: 12345
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