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The Race Debate: Genetically Useful or Inherently Insignificant?

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Submitted By amas4416
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Throughout history, human races have become statistically more insignificant as time has elapsed. Through migration, genetic drift, random mutation, interbreeding, clustering, and natural selection, genetic variation has greatly increased, leaving behind the ‘set in stone’ categories of race that were once crucial in science. It is detrimental to not only individuals but also groups of people to base our medical research and genetic testing solely on race alone. Ancestry has proven to be a much greater marker for determining if individuals carry genes that code for certain genetic diseases. Where and who we descend from determines what genes we may carry, not simply which ‘race’ or social construction we belong to.
The realization that the term ‘race’ is no longer genetically relevant or able to describe the immensity of differences between each and every individual comes from new discoveries in “human genome sequence variation research and molecular anthropological research” (Rosenberg, 2002). Many now understand that ‘race’ is not the correct term, but there is still debate over what framework to use that adequately reflects the new criteria of these recent findings (Royal & Dunston, 2004). This new research in genetic variation has made it near impossible to still believe that race is a genetically relevant way to classify human beings. Our background regarding the variation of our genetic makeup is essentially a melting pot. As ancestors carry on genes and incoming members of the population introduce new ones, our history continues to change. It is said that, “ the process of using genetics to define ‘race’ is like slicing soup, you can cut wherever you want, but the soup stays mixed (Anonymous, 2002).” In other words, there can be no clear cut boundaries such as those provided by the concept of ‘race.’ Every individual is a unique mix of their ancestors, each affected differently by evolutionary processes and geographic origin. “We all have a common birthplace somewhere in Africa (Cann, Stoneking, & Wilson, 1987).” What Cann and others are saying is that we all descended from the same ancestor somewhere far back in our history and geographical dispersion and clustering is what has led to the differences in our genetic information. Barbujani, Magagni, Minch, & Cavalli-Sforza (1997) present two facts that clearly show how our genetic information corresponds to geography and not social constructions such as 'race’ or ‘ethnicity.’ Due to natural selection, migration, genetic drift, and other evolutionary forces, most of our genetic variation corresponds directly to geographical distance and what continents we originated from (Rosenberg, 2002).
“Racial classifications do not adequately describe the distribution of genetic variation in humans (Tishkoff & Kidd 2004).” Genetic drift is a huge part of the explanation that geographic location and ancestry are more suited to categorize people than ‘race’ is. Every individual’s ancestry at one time started in Africa. Some populations left behind more descendants than others, explaining why some African populations are more closely related than those who migrated out of Africa. Expansion by some populations continued across the globe and out of Africa completely, leading to new inhabitants all over the world. Because of this pattern of migration, two individuals who are not related and belong to different ‘races’ could have shared common ancestors that lived together at one time and carried a specific gene that both individuals now have. This further explains why using ‘race’ as the boundaries between groups of people is “an exercise in futility and idiocy (Shipman, 1994).” Perhaps the most detrimental effect of using ‘race’ to define groups of human beings is when genetic testing for diseases is carried out solely on the basis that certain racial groups get tested for certain genetic disorders. Mutations in genes that cause these diseases can be passed from generation to generation, down ancestral lines and through populations that have geographically clustered together. Many people go without testing for diseases that they are carriers of simply because, phenotypically, they aren’t supposed to have the genetic variant that causes the disease. However, “if disease associated alleles are common, they are likely to be relatively ancient and therefore shared among multiple populations (Patil et. al, 2001).” Patil explains that genetic variants that cause diseases are normally spread throughout multiple populations and across many ancestral lines and therefore ‘race’ is genetically insignificant as the basis for genetic testing.
One example that led to serious health consequences for an 8-year-old boy is in testing for sickle cell anemia. The gene variant that codes for this disease is prevalent mostly in Africans; however is also found in Hispanics, Northwestern Indians, and those populations around the Mediterranean (Braun, 2002). This young boy was phenotypically European, therefore never tested for the sickle-cell gene. He presented symptoms of abdominal pain and anemia and was set to undergo risky surgery, until a test came back positive for sickle cell anemia which was never diagnosed (Witzig, 1996). If doctors had looked at his ancestry rather than just his phenotype, they would have seen that his parents are of Northwest Indian, European, and Mediterranean descent and most likely would have had the boy tested and treated before any of his symptoms became a problem. This supports that variation is constant in every individual and will always be conflicting with race.
This doesn’t just happen in individuals; it is a common occurrence in entire ethnic groups as well. Since sickle-cell anemia is normally coined as the ‘black disease,’ Africans face a lot of discrimination. When in reality, “Greece has a rate of sickle cell anemia that is twice that of African Americans and black South Africans do not carry the sickle-cell trait (Kevles, 1995).” Since everyone is so quick to judge based on skin color, the disease wasn’t even detected in other populations, and was thought to only be an issue to those with a black phenotype. The same issue arose with Ashkenazi Jews and the presence of Tay-Sachs disease (Molnar 2001). Even though many other people are carriers of the genetic variant that causes the disease, it is only known as the “Jew disease.” May other diseases tested solely based on racial divisions have posed similar problems; for example, cystic fibrosis. Continued research has gone to prove that ‘race’ is a construction of the past that is no longer useful genetically in the medical field. Race is simply a political definition of a group of people distinguished by physical characteristics only. Medical tests for genetic diseases should be based on ancestry and done on an individual case basis to avoid detrimental results. Though races may have once had genetic relevance in science, with the emergence of new research in genomes and a closer look at ancestral lineage, it is now apparent that our genetic makeup is a mix that is constantly changing and is not adequately defined by something as simple as a physical characteristic.

Literature Cited
Anonymous. Slicing soup. Nat. Biotechnol. 20, 637 (2002).
Barbujani, G., Magagni, A., Minch, E. & Cavalli-Sforza, L.L. An apportionment of human DNA diversity. Proc. Natl. Acad. Sci. USA 94, 4516−4519 (1997).
Braun, L. Race, ethnicity, and health: can genetics explain disparities? Perspect. Biol. Med. 45, 159−174 (2002).
Cann, R.L., Stoneking, M. & Wilson, A.C. Mitochondrial DNA and human evolution.Nature 3, 31−36 (1987).
Dunston, G. M. & Royal, C. D.M. Changing the paradigm from ‘race’ to human genome variation. Nature Genetics. 36 S5-S7 (2004).
Kevles, D.J. In the Name of Eugenics: Genetics and the Uses of Human Heredity(Harvard University Press, Cambridge, 1995).
Kidd, K.K. & Tishkoff, S.A. Implications of biogeography of human populations for 'race' and medicine. Nature Genetics. 36 S21-S27 (2004).
Molnar, S. Human Variation: Races, Types and Ethic Groups 5th edn. (Prentice Hall, New Jersey, 2001).
Patil, N. et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 294, 1719−1723 (2001).
Rosenberg, N.A. et al. Genetic structure of human populations. Science 298, 2381−2385 (2002).
Shipman, P., The evolution of racism. 263 (1994).
Witzig, R. The medicalization of race: scientific legitimization of a flawed social construct. Ann. Intern. Med. 125, 675−679 (1996).

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