Ethical Issues in Genetic Epidemiology

Abstract

This chapter reviews the breakthrough discovery of the complete sequence of human DNA in 2003, which rapidly ushered in an era of genomics and big data. It discusses “precision medicine,” which refers to the notion of accounting for individual variability in genes, environment, and lifestyle to devise new ways to prevent, detect, diagnose, and treat health conditions. It also describes “precision public health” as the related effort to use individual variability to more finely tailor preventive interventions for at-risk groups and improve population health. The chapter addresses scientific questions about the roles of genes, environmental, gene–gene, and gene–environment interactions in human health through the rigorous study of genotypic, phenotypic, and environmental data in human populations. It tackles the genomic contributions to health and disease, such as the assessment of whether diseases and gene variants show correlated transmission among related individuals.