Some variations in the genome have demonstrated value in predicting the health status of a person. Where a disease is monogenic, like Huntington's disease, its onset is foretold by the presence or absence of a mutation in a single gene (Guttmacher and Collins). The presence and location of single nucleotide polymorphisms (each commonly referred to as a "SNP," pronounced "snip"), may inform decisions in drug therapy by predicting an ability to metabolize a drug or a risk of toxicity (Guttmacher and Collins; Syvanen). In other instances, an enzyme or protein may yield similar information. Efforts to map the human genome with greater specificity, as well as efforts in pharmacogenomics, rely upon comparisons of the patterns of genetic variation in large numbers of people.
Media coverage and other efforts to relate complex concepts in genetics to a lay audience have revealed a tendency to oversimplify the relationship between one's genome and one's destiny. Specifically, the predictive value of genetic information is often overstated. Behavioral genetics, for example, remains in its infancy; few genetic mutations or polymorphisms are thought predictive of intelligence or cognitive ability. With the exception of monogenic diseases, which are relatively rare, the predictive relationship between the genome and disease is compromised by the relative lack of knowledge about the influence of environmental factors. The wide range of more common diseases is a function of interactions between the genome and such factors as diet, climate, and physical activity. Finally, a gap typically exists between knowledge of the discovery of a causal relationship attributable to a particular genetic variation and knowledge of a treatment for the condition at issue.
The result of this oversimplification is genetic determinism (Rothstein, 1999), alternatively termed "genetic reductionism" (Lee, Mountain, and Koenig) or "genetic essentialism" (Nelkin). The terms describe the phenomenon through which the importance of genetic factors is emphasized at the relative expense of environmental and social factors. Together, determinism and discrimination are elements of stigmatization (Condit, et al.). As explained by Celeste M. Condit, Roxanne L. Parrott, and Beth O'Grady in their 2000 article, discriminatory attitudes about genetics get much of their stigmatizing impact from excessively deterministic attitudes about genetics.
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