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An overview of the science and social implications of research in behavior genetics

Research that elucidates how social, behavioral, and genetic influences interact to impact health may reveal findings that demonstrate beneficial effects on individuals and their health while other findings on interactions may show harmful effects.

This lack of consistency may lead to differing perceptions of the value of research on interactions, which in turn may affect the willingness of researchers to do this work; funders to support it; care providers to act on existing evidence; and the population to embrace the findings. On the other hand, such findings could lead to stigmatization and could have negative effects on the ability of individuals or groups to receive appropriate health care and insurance coverage.

Consequently, it is important that transdisciplinary research on the impact on health of interactions among social, behavioral, and genetic factors also encompasses investigations that improve our understanding of how individuals make use of this information and how policymakers and the public interpret such research. Efforts to address the implications of this type of knowledge are not new.

Introduction

For example, environmental regulation is focused to a large degree on the protection of health. Over the last two decades, much attention has been paid to the social and ethical implications of genetic and genomic information Murray et al. 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 genomics 1 and pharmacogenomics 2 Need et al.

  1. These issues merit particular attention in studies of the interactions among social, behavioral, and genetic factors on health in order to ensure that participants truly understand what is at stake in the research. Also, such activities take hours to complete and require a significant level of intellectual involvement.
  2. Nor is it clear that protecting only those who have greater risk is necessarily the best policy. Thus, the idea that social policy follows inexorably from scientific discovery is every bit as misplaced as the notion of scientific determinism itself.
  3. One example of a schema is a timeline representing various events organized logically in chronological order of occurrence.
  4. Among the issues that are often addressed in current consent forms are the types of research that may be conducted; the risks and benefits, both personal and social, that may result from the research; who is going to hold and have access to these resources; what privacy and security protections are going to be used; under what conditions, if any, individuals may be recontacted either to obtain further consent or to be provided specific health-related results; and the possibility that intellectual property may be developed.

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. Even single gene disorders such as familial hypercholesterolemia Austin et al.

Such disorders may involve hundreds of different mutations, most with reduced penetrance. Many have pleiotropic effects. Sickle cell disease, which is caused by a single mutation but has many manifestations, is an even starker example of complexity in the face of apparent simplicity.

Moreover, to date, the overwhelming majority of reported genetic associations have not been replicated in subsequent studies Hirschhorn et al. Social and behavioral factors are even more difficult to measure than genetic variation. Nor are phenotypic effects readily predictable simply by characterizing the relevant genetic sequences, behaviors, and social environments, either together or individually.

Network theory teaches that living systems are remarkably resistant to change and that the perturbation of one part tends to lead to a countervailing response by another in order to promote stability Barabasi, 2002.

In contrast to this complexity, claims about scientific findings are at times simplistic and even exaggerated. The reasons for this tendency are many.

  • In contrast to this complexity, claims about scientific findings are at times simplistic and even exaggerated;
  • Informed Consent The last decade has seen an enormous amount of debate regarding the ethical and legal requirements of informed consent for the use of medical information and human biological materials for research Clayton et al;
  • The NIH should develop RFAs for research that elucidate how best to encourage people to engage in health-promoting behaviors that are informed by a greater understanding of these interactions, how best to effectively communicate research results to the public and other stakeholders, and how best to inform research participants about the nature of the investigation gene-environment interactions and the uses of data following the study;
  • From this perspective, genetic essentialism should be perceived as a continuous dimension bounded by a bottom limit — genes have no influence whatsoever — and a top limit — genes explain everything — with most people positioning themselves somewhere in between;
  • However, the array of factors that must be considered in deciding how to use this knowledge is very broad and extends far beyond the science itself;
  • His work inspired me to apply the same benchmark in order to address a related, much discussed, but until then unexplored research question:

The language of science plays a role. Furthermore, the scientific method itself is reductionist, seeking to isolate the impact of a particular factor on an outcome of interest. Finally, scientists face economic and social pressures to emphasize the significance of their findings in easily understandable terms that may have the effect of distorting the subtleties and uncertainties of the results Holtzman et al. These difficulties are compounded by those outside the scientific community who often are ill equipped to challenge what are perhaps overstated scientific claims.

The media understandably prefers straightforward messages, while concepts of relative risk are notoriously difficult to understand. The legal system continues to struggle, in both regulatory settings and the courtroom, with the enormous disjunction between its methods of truth finding and those of science Rothstein, 1999. Failures to convey the limitations and complexity of scientific findings are significant because beliefs about the causation of health and disease affect the allocation of responsibility and resources, and this has ethical and social implications.

Given the consequences of identifying clear causal explanations, the drive for simplification is strong.

People generally seek simple explanations for events in their lives. The attraction of reductionism and the search for a limited number of causes also contribute to the prominence of determinism—the idea that once a particular factor is known, biological and even social consequences follow more or less inexorably. The trend toward deterministic thinking has been particularly prominent regarding genetics, dating back at least to the eugenics movement of the nineteenth and early twentieth centuries Kevles, 1985 ; Duster, 1990but it extends throughout science and society.

  • Of course, some dimensions of genetic essentialism refer to properties that are partly observable in the real world e;
  • Indeed, the genetic attribution schema already presumes that these traits are significantly influenced by genetics;
  • However, no matter what the reason for lack of avoidance, it does seem likely that most people do not choose ill health as a matter of preference.

The first step to countering the resulting fear of science is conveying accurately scientific findings and the difficulties involved in predicting the responses of complex systems. The question is whether and how to intervene to improve health, given this complexity.

  1. Genetic causes of monogenic heterozygous familial hypercholesterolemia. In considering what level of lay involvement is appropriate in studies of the impact of interactions among social, behavioral, and genetic factors on health risks of the research, the practicability of inclusion should be taken into account.
  2. I further argue that people are more confident about their guesses when it comes to assessing the influence of genetics on traits that are either very close to biology or very far from it.
  3. What is it that makes people think that some traits are more or less affected by genetic predispositions? The paradigmatic example in the United States is research involving Native Americans because they are members of sovereign nations; however, in that setting, care must be taken to ensure the representativeness of the process and of those who purport to speak on behalf of the participants Council for International Organizations of Medical Sciences, 2002 ; Sharp and Foster, 2002.

For the purposes of this discussion, it is assumed an overview of the science and social implications of research in behavior genetics it will not be possible to alter particular gene sequences in an individual, at least not in the near future. Thus, any efforts to improve health and well-being in the population as a whole will necessarily depend on using pharmacologic and other medical interventions as well as on changing the social environments and individual health behaviors.

Opportunities to alter these nongenetic factors in useful ways may exist at many levels, from the individual, to the family and community, to larger—even global—approaches. The goals of intervention may vary because notions of health change over time and differ by cultural settings. Moreover, health-promoting actions can complement or compete with other goods at both the personal and societal levels, including individual priorities and values as well as commercial interests. Indeed, the matrix of factors that affect the application of scientific knowledge about social, behavioral, and genetic interactions and the values at stake is every bit as complex as the science that we seek to understand.

An example may be useful here. It is known that individuals who have one copy of certain mutations in the gene that codes for alpha-1-antitrypsin A1AT i.

On its face, it seems obvious that such individuals should not experience these potential harmful exposures. But questions about how to achieve this goal quickly arise. One might think that people with mutations in A1AT would simply choose to avoid being in harmful environments. However, a great deal of evidence demonstrates that knowledge of risk does not lead inexorably to health-promoting behavior change Marteau and Lerman, 2001and at times it may lead to harmful responses.

The possible explanations for these apparently suboptimal outcomes are many. In some cases, susceptible individuals simply choose to ignore the risk of toxic exposures.

The argument in this case would be that people with mutations in A1AT do not avoid exposing themselves to risk because they know they will receive treatment if they become ill. Some decisions not to avoid potentially harmful exposures, however, result from trade-offs that are made with other goals. Some people with these mutations may find that they can earn a living wage only if they live in a smoggy city or work in sites with harmful fumes.

They can be faced with choosing between optimizing their health and meeting their immediate needs and those of their families. Also, the personal protective equipment that could ameliorate some of the risk to such susceptible individuals can be onerous and expensive. However, no matter what the reason for lack of avoidance, it does seem likely that most people do not choose ill health as a matter of preference. Moreover, relatively little research has been done to show how to increase health-promoting behavior in these type of situations.

Nor is it clear that protecting only those who have greater risk is necessarily the best policy. Exposures to smoke and toxic fumes are potentially harmful to a large part of the population, not just to those who are particularly susceptible.

Reducing such exposures, then, could improve the health of the public generally, not just those members of the public with mutations in A1AT or other susceptibilities. As a result, environmental regulation has taken a variety of approaches, sometimes requiring individual protective measures, but frequently trying to reduce exposures for everyone. This has led to noticeable improvements in air and water quality over the past 50 years, with benefits going beyond good health to those as simple as the pleasure of having blue skies and clean water Grodsky, 2005.

Policies regarding who should bear the costs of behavioral choices and environmental exposures are mixed as well.

  • The research process typically proceeds by fits and starts;
  • Given the consequences of identifying clear causal explanations, the drive for simplification is strong;
  • Responses from the control group reveal that the average genetic attribution for political ideology and credit card debt is low, 10;
  • In this way, information about the chronology of events mental objects is organized in their mind and remains accessible even when the visual representation is not available;
  • The NIH should develop RFAs for research that elucidate how best to encourage people to engage in health-promoting behaviors that are informed by a greater understanding of these interactions, how best to effectively communicate research results to the public and other stakeholders, and how best to inform research participants about the nature of the investigation gene-environment interactions and the uses of data following the study;
  • At the same time, both the federal and many state governments regulate the extent to which insurers can use some types of information, particularly information about genetic predispositions, in their underwriting.

In the individual health insurance market, people who smoke or who work in hazardous jobs pay higher premiums. At the same time, both the federal and many state governments regulate the extent to which insurers can use some types of information, particularly information about genetic predispositions, in their underwriting. Employers are concerned with health care costs because they pay higher premiums if their workers have large claims.

Over the last 20 years, the ability of employers to exclude workers who may have high health care costs has been limited by laws such as the Americans with Disabilities Act ADA 42 U. Johnson Controls 499 U. Thus, Terri Seargent, who was essentially asymptomatic, successfully claimed that she was fired because of the costs of enzyme replacement for her A1AT deficiency Clayton, 2001.

This body of law, however, recently has been undercut by cases such as Chevron v. Finally, although society often tries to encourage its members to avoid risky behavior, it has chosen not to require people to bear all of the consequences of their actions. Instead, reflecting a belief that a civil society should provide basic care for its citizens, our health care system provides a substantial, if spotty, safety net against catastrophic illness for many of its members, even when those diseases result in part from personal behaviors.

Expressed another way, risks to individual health of whatever sort—genetic, behavioral, or social—raise a set of common questions, as illustrated below. For these purposes, we assume that a threshold level of scientific validity has been met demonstrating that a particular factor influences disease risk.

People may have more control over access to some sorts of personal risk information than to others. For example, the fact that an individual smokes cigarettes is difficult to hide, while whether that person has a genetic variant that affects the metabolism of that smoke may not be apparent without a specific test.

If the fact that a person has a particular risk factor is known, who should be able to obtain access to this knowledge?

Options include the individual, the government, and private entities such as employers or insurers. If the fact that a person has a particular risk is known, who gets to act upon that information? Can an insurer permissibly charge higher premiums? What are the costs of acting on the risk information, and who will bear those costs? The answers to this inquiry can be complex.

For example, excluding particular individuals from certain opportunities or social goods may benefit some entities, such as employers, while arguably harming the individual as well as impinging on social norms of equality. It also is important to recognize that most costs are shared, albeit to varying degrees, and all, in the final analysis, are borne by the citizenry.

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In some ways, traits such as the A1AT deficiency present a relatively simple case in the United States, because these mutations are present primarily in Caucasians and cause disorders—emphysema and liver damage—that are not particularly stigmatizing. Questions about appropriate interventions almost certainly will become more vexing as more is learned about the impact of interactions among social, behavioral, and genetic variation on behavioral itself.

For example, it was recently reported that individuals with low levels of monoamine oxidase A MAOA who were subjected to severe child abuse are more likely to engage in a variety of antisocial behaviors Caspi et al. These results could raise a host of questions, ranging from whether these children need special protection during childhood to whether they should be monitored for antisocial behavior more closely as adults, all of which have serious implications for civil liberties.

Even assuming that the findings of Caspi et al. At times, particular genetic alleles are more frequent in individuals of a certain geographic or historical origin. For example, mutations that cause cystic fibrosis are more common in populations of Northern European ancestry than in those of Asian or African origin Nussbaum et al. Similarly, behaviors and social environments and practices vary among cultural groups. Because it often is difficult to ascertain these variables for any particular person, it can be tempting to use more readily available social groupings, such as race or ethnicity, as proxies for variations in all these domains.

Using categories such as race as a proxy, however, can have adverse effects. For example, in the late 1980s and early 1990s, after it became clear that penicillin prophylaxis could be lifesaving for children with sickle cell disease, a number of states decided to screen only non-Caucasian newborns for hemoglobinopathies, with the reasoning that focused screening would be more cost-effective because these mutations are most prevalent in populations that arose in equatorial areas.

Most states subsequently abandoned this strategy for several reasons, not the least of which is that some affected children were missed. One reason for incomplete ascertainment is that hemoglobinopathies occur in many populations in this country. More generally, states have faced difficulties in defining which children were to be tested. No matter what was tried, affected children were missed, including some whose ancestry meant that they were more likely to have inherited these mutations.

It also has become increasingly clear that race is not a stable category, but rather is a social construct whose definition changes over time.