Search results

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.

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 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.

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 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.