concern whose health is to be protected—that of the average person in the population of interest and/or the health of high-risk individuals—as well as how and at what cost. Over the last two decades, much attention has been paid to the social and ethical implications of genetic and genomic information (Murray et al., 1996; Walters and Palmer, 1997; Rothstein, 1997; Rothstein, 2003; Mehlman, 2003). Indeed, the Human Genome Project occasioned the first decision by an institute of the National Institutes of Health (NIH) to designate specific funds to explore the social implications of a project. In this arena, the focus has been broader, ranging from effects on health to discrimination in work and insurance to notions of personal responsibility, including health and criminal law. More recently, these areas of inquiry have begun to merge in consideration of environmental genomics1 and pharmacogenomics2 (Need et al., 2005), both of which are concerned explicitly with interactions. Discussion in the following section builds upon all these discourses, with an emphasis on the implications of the interactions between genetic susceptibility and social and behavioral factors.

Another very important area in the ethical, legal, and social implications realm is that of the granting and licensing of intellectual property rights on discoveries related to genetics. A recent National Research Council report (NRC, 2006) explores this issue in depth, concluding that “the patent landscape, which is already becoming complicated in areas such as gene expression and protein-protein interactions, could become considerably more complex and burdensome over time.” For a thorough and detailed examination of the very complex issues in this area, the committee refers readers to the NRC report entitled Reaping the Benefits of Genomic and Proteomic Research: Intellectual Property Rights and Innovation in Public Health.


The picture that emerges from the study of the impact of the interactions among social, behavioral, and genetic factors on health is one of complexity. Even single gene disorders such as familial hypercholesterolemia (Austin et al., 2004a; Austin et al., 2004b) are anything but simple. Such disorders may involve hundreds of different mutations, most with


Environmental genomics is defined as understanding how individuals differ in their susceptibility to environmental agents and how these susceptibilities change over time. Environmental genomics includes both the ways in which environmental factors cause genetic damage as well as the ways in which genetic variation affects responses to environmental exposures.


Pharmacogenetics is the “branch of genetics that studies the ways in which genetically determined variations affect responses to drugs in humans or laboratory organisms” (Wordnet 2.0, 2003).

The National Academies of Sciences, Engineering, and Medicine
500 Fifth St. N.W. | Washington, D.C. 20001

Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement