Genetics, Health and Society: Volume 16

Heritability studies attempt to estimate the contribution of genes (vs. environments) to variation in phenotypes (or outcomes of interest) in a given population at a given time. This chapter scrutinizes heritability studies of adverse health phenotypes, emphasizing flaws that have become more glaring in light of recent advances in the life sciences and manifest most visibly in epigenetics.

Drawing on a diverse body of research and critical scholarship, this chapter examines the veracity of methodological and conceptual assumptions of heritability studies.

The chapter argues that heritability studies are futile for two reasons: (1) heritability studies suffer from serious methodological flaws with the overall effect of making estimates inaccurate and likely biased toward inflated heritability, and, more importantly (2) the conceptual (biological) model on which heritability studies depend – that of identifiably separate effects of genes versus the environment on phenotype variance – is unsound. As discussed, contemporary bioscientific work indicates that genes and environments are enmeshed in a complex (bidirectional, interactional), dynamic relationship that defies any attempt to demarcate separate contributions to phenotype variance. Thus, heritability studies attempt the biologically impossible. The emerging research on the importance of microbiota is also discussed, including how the commensal relationship between microbial and human cells further stymies heritability studies.

Understandably, few sociologists have the time or interest to be informed about the methodological and theoretical underpinnings of heritability studies or to keep pace with the incredible advances in genetics and epigenetics over the last several years. The present chapter aims to provide interested scholars with information about heritability and heritability estimates of adverse health outcomes in light of recent advances in the biosciences.

Our primary aim is to discuss the variability that exists in the operationalization of race/ethnicity in research on genetic and biological markers. We employ Stuart Hall’s “floating signifiers” of race approach to explain the ambiguous manner in which researchers discuss the links between race and genetics.

We examine articles that use race/ethnicity and genetic or biological markers between 2000 and 2013 within three prominent genetic journals. We focused on original, empirical articles only. We utilize various race/ethnic-related search terms to obtain our sample and to categorize how terms were used.

A total of 336 articles fit our search criteria. The number of articles mentioning race/ethnicity and genetic or biological information increased over the time. A significant percentage of publications base their research on whites only. When discussions of race are included in studies, scientists often use multiple categories of race/ethnicity without much explanation.

We omit non-research articles and commentary for each journal, which could contain important discussions regarding race and genetics. This work highlights how race/ethnicity can vary in application and interpretation.

Our discussion of race/ethnicity as “floating signifiers” adds a layer of complexity to the longstanding debate regarding the importance of race/ethnicity in genetic research. The “floating” nature of race/ethnicity underlines how subjective the characterizations of samples are and how possible interpretations of results for groups can impact health disparities research. Given the increased use of genetic data by social scientists, there is a need for more cross-disciplinary discussions on the race–gene relationship.

This chapter explores the rise in genetic approaches to health disparities at the turn of the twenty-first century.

Analysis of public health policies, genome project records, ethnography of project leaders and leading genetic epidemiologists, and news coverage of international projects demonstrates how the study of health disparities and genetic causes of health simultaneously took hold just as the new field of genomics and matters of racial inequality became a global priority for biomedical science and public health.

As the U.S. federal government created policies to implement racial inclusion standards, international genome projects seized the study race, and diseases that exhibit disparities by race. Genomic leaders made health disparities research a central feature of their science. However, recent attempts to move toward analysis of gene-environment interactions in health and disease have proven insufficient in addressing sociological contributors to health disparities. In place of in-depth analyses of environmental causes, pharmacogenomics drugs, diagnostics, and inclusion in sequencing projects have become the frontline solutions to health disparities.

The chapter argues that genetic forms of medicalization and racialization have taken hold over science and public health around the world, thereby engendering a divestment from sociological approaches that do not align with the expansion of genomic science. The chapter thus contributes to critical discussions in the social and health sciences about the fundamental processes of medicalization, racialization, and geneticization in contemporary society.

This chapter compares interdisciplinary research that engages genomic science from economics, political science, and sociology. It describes, compares, and evaluates concepts and research findings from new and rapidly developing research fields, and develops a conceptual taxonomy of the social environment.

A selection of programmatic and empirical articles, published mostly since 2008 in leading economics, political science, and sociology journals, were analyzed according to (a) the relationship they pose between their discipline and genomic science, (b) the specific empirical contributions they make to disciplinary research questions, and (c) their conceptualization of the “social environment” as it informs the central problematique of current inquiry: gene-environment interaction.

While all three of the social science disciplines reviewed engage genomic science, economics and political science tend to engage genomics on its own terms, and develop genomic explanations of economic and political behavior. In contrast, sociologists develop arguments that for genomic science to advance, the “environment” in gene-environment interaction needs better theorization and measurement. We develop an approach to the environment that treats it as a set of measurable institutional (rule-like) arrangements, which take the forms of neighborhoods, families, schools, nations, states, and cultures.

Interdisciplinary research that combines insights from the social sciences and genomic science should develop and apply a richer array of concepts and measures if gene-environment research – including epigenetics – is to advance.

This chapter provides a critical review and redirection of three rapidly developing areas of interdisciplinary research on gene-environment interaction and epigenetics.

This chapter introduces readers to a complex adaptive systems approach for integrating research on genes, behavior, and social structures/institutions. Until recently, scientists have resorted to reductionism as a decoding and epistemological strategy for understanding human health. The complex bonds among health’s biological, behavioral, and social dimensions, however, cannot be fully grasped with reductionist schemas. Moreover, because reducing and simplifying can lead to incomplete understanding of phenomena, the resulting deficient knowledge has the potential to be harmful.

To achieve its purpose, this primer will: (1) introduce fundamental notions from complexity science, useful for inquiry and practice integrating research on genes, behavior, and social structures; (2) outline selected methodological strategies employed in studying complex adaptive/dynamic systems; (3) address the question, “Specifically, how can a dynamic systems approach be helpful for integrating research on genes, behavior, and social structures/institutions, to improve the public’s health?”; and (4) provide examples of studies currently deploying a complexity perspective.

The originality/value of this primer rests in its critique of the research status quo and the proposition of an alternative lens for integrating genomic, biomedical, and sociological research to improve the public’s health. The topic of complex adaptive/dynamic systems has begun to flourish within sociology, medicine, and public health, but many researchers lack exposure to the topic’s basic notions and applications.

This study analyzes the rise of genome instability in the life sciences and traces the problematic of instability as it relates to the sociology of health. Genome instability is the study of how genomes change and become variable between generations and within organisms over the life span. Genome instability reflects a significant departure from the Platonic genome imagined during the Human Genome Project. The aim of this chapter is to explain and analyze research on copy number variation and somatic mosaicism to consider the implications of these sciences for sociologists interested in genomics.

This chapter draws on two multi-sited ethnographies of contemporary biomedical science and literature in the sociology of health, science, and biomedicine to document a shift in thinking about the genome from fixed and universal to highly variable and influenced by time and context.

Genomic instability has become a framework for addressing how genomes change and become variable between generations and within organisms over the life span. Instability is a useful framework for analyzing changes in the life sciences in the post-genomic era.

Genome instability requires life scientists to address how differences both within and between individuals articulate with shifting disease categories and classifications. For sociologists, these findings have implications for studies of identity, sociality, and clinical experience.

This is the first sociological analysis of genomic instability. It identifies practical and conceptual implications of genomic instability for life scientists and helps sociologists delineate new approaches to the study of genomics in the post-genomic era.

This study explores the social, biological, and genetic determinants of depression in later life. It adds complexity to the idea that later life depression is a natural outgrowth of vascular impairment, antagonistic pleiotropy, or compromised neuroanatomical structures, arguing instead for the importance of education as a fundamental cause.

The study uses the NAS-NRC Twin Registry of World War II Veterans. The use of twins permits the exploration of gene-environment interplay. A recent survey instrument associated with the registry contains numerous indicators of health, including a measure of depression.

The results show that education has a strong negative relationship with depression among those in their 70s and early 80s. Although this relationship is partly explained by lower rates of cardiovascular disease and diabetes among the well-educated, the relationship between education and many common physical illnesses is quite small. Most people of this age experience at least one chronic illness. The relationship between education and depression is explained, instead, by how education reduces impairments in activities of daily living. These impairments are not an inevitable outgrowth of declining health. The well-educated are better able to moderate the impact of poor health on daily functioning. Moreover, the well-educated are able to avoid the otherwise strong genetic risks for depression in later life. Gene × environment models show a high heritability for later life depression on average, but also reveal that this heritability declines with increasing education. Among those with a four-year college degree, the heritability of depression is very small.

These patterns are interpreted in light of compensatory gene × environment interactions, which emphasize the importance of especially enriched environments for overcoming genetic risk.

Given the growth in use of Preimplantation Genetic Diagnosis (PGD) in reproductive medicine, most fertility clinics have developed websites describing the benefits of PGD. This chapter examines the media frames employed on 372 U.S. fertility clinic websites marketing PGD to consumers and how these frames promote biomedicalization.

Evaluation of website discourse was conducted with the use of frame analysis, a research methodology for examining the way media frames bind together claims, judgments, and value statements into a narrative that guides readers’ interpretation of an issue.

Findings show that website discourse frames PGD in terms of the attainment of reproductive normality, the management of reproductive risk, and the achievement of technological progress. These discursive frames contribute to the ongoing biomedicalization of reproduction by re-naturalizing conception as a choice rather than a natural fact, by promoting preoccupation with biomedical risk, and by affirming new forms of technological power and expertise.

Examination reveals the ways in which PGD has developed its own system of representations, notions of exchange, and epistemic forms, and highlights the important ethical issues leveraged on fertility clinic websites marketing PGD.

As one of the first attempts to systematically analyze media frames that depict PGD on fertility clinic websites, this study contributes to medical sociology by advancing theoretical and empirical understanding of the media processes shaping accounts of reproductive technologies. Findings also provide a foundation for further analysis of the social norms and bioethical standards arising from consumer marketing of reproductive technologies.

Risk notification is part of a focus on preventive medicine that is dominant in contemporary Western biomedicine. Genomics has forecasted great advances in alleviating disease and prolonging human life, moving from a reactive to a preventative practice. However, in doing so, genomics redraws boundaries, potentially classifying all people as possible carriers of malfunctioning genes. This chapter presents a critical review of the practice of ‘risk notification’ as undertaken by familial cancer genetic testing services, focusing on the right to be informed or not to be informed and implications of knowing.

With backgrounds in anthropology, psychology and public health, the authors draw upon literature around risk notification from a range of disciplines.

In the context of familial cancer, clients may be asked to provide contact information for biological family members to inform them of their potential genetic risk. Through these processes a number of tensions and issues may emerge that relate to fundamental bioethical principles. The ability and decision whether to know, or conversely, to not know, is ethically fraught. We consider the roles and rights of family members and clients, as well as the broader goal of population health.

While much attention has been devoted to clients’ right to know in the context of medical research and treatment, relatively little work has examined the right not to know and adverse consequences of knowing. This review addresses concerns which have rarely been critically examined and debated in the context of risk notification of biological family members.

This mixed-methods study reports on an outreach clinics program designed to deliver genetic services to medically underserved communities in Wisconsin.

We show the geographic distribution, funding patterns, and utilization trends for outreach clinics over a 20-year period. Interviews with program planners and outreach clinic staff show how external and internal constraints limited the program’s capacity. We compare clinic operations to the conceptual models guiding program design.

Our findings show that state health officials had to scale back financial support for outreach clinic activities while healthcare providers faced increasing pressure from administrators to reduce investments in charity care. These external and internal constraints led to a decline in the overall number of patients served. We also find that redistribution of clinics to the Milwaukee area increased utilization among Hispanics but not among African-Americans. Our interviews suggest that these patterns may be a function of shortcomings embedded in the planning models.

Planning models have three shortcomings. First, they do not identify the mitigation of health disparities as a specific goal. Second, they fail to acknowledge that partners face escalating profit-seeking mandates that may limit their capacity to provide charity services. Finally, they underemphasize the importance of seeking trusted partners, especially in working with communities that have been historically marginalized.

There has been little discussion about equitably leveraging genetic advances that improve healthcare quality and efficacy. The role of State Health Agencies in mitigating disparities in access to genetic services has been largely ignored in the sociological literature.