Trustworthiness matters: Building equitable and ethical science.

Trustworthy science requires research practices that center issues of ethics, equity, and inclusion. We announce the Leadership in the Equitable and Ethical Design (LEED) of Science, Technology, Mathematics, and Medicine (STEM) initiative to create best practices for integrating ethical expertise and fostering equitable collaboration.

Problems with Using Polygenic Scores to Select Embryos.

Companies have recently begun to sell a new service to patients considering in vitro fertilization: embryo selection based on polygenic scores (ESPS). These scores represent individualized predictions of health and other outcomes derived from genomewide association studies in adults to partially predict these outcomes. This article includes a discussion of many factors that lower the predictive power of polygenic scores in the context of embryo selection and quantifies these effects for a variety of clinical and nonclinical traits. Also discussed are potential unintended consequences of ESPS (including selecting for adverse traits, altering population demographics, exacerbating inequalities in society, and devaluing certain traits). Recommendations for the responsible communication about ESPS by practitioners are provided, and a call for a society-wide conversation about this technology is made. (Funded by the National Institute on Aging and others.).

An Ethical Framework for Research Using Genetic Ancestry.

A wide range of research uses patterns of genetic variation to infer genetic similarity between individuals, typically referred to as genetic ancestry. This research includes inference of human demographic history, understanding the genetic architecture of traits, and predicting disease risk. Researchers are not just structuring an intellectual inquiry when using genetic ancestry, they are also creating analytical frameworks with broader societal ramifications. This essay presents an ethics framework in the spirit of virtue ethics for these researchers: rather than focus on rule following, the framework is designed to build researchers' capacities to react to the ethical dimensions of their work. The authors identify one overarching principle of intellectual freedom and responsibility, noting that freedom in all its guises comes with responsibility, and they identify and define four principles that collectively uphold researchers' intellectual responsibility: truthfulness, justice and fairness, anti-racism, and public beneficence. Researchers should bring their practices into alignment with these principles, and to aid this, the authors name three common ways research practices infringe these principles, suggest a step-by-step process for aligning research choices with the principles, provide rules of thumb for achieving alignment, and give a worked case. The essay concludes by identifying support needed by researchers to act in accord with the proposed framework.

Wrestling with Social and Behavioral Genomics: Risks, Potential Benefits, and Ethical Responsibility.

In this consensus report by a diverse group of academics who conduct and/or are concerned about social and behavioral genomics (SBG) research, the authors recount the often-ugly history of scientific attempts to understand the genetic contributions to human behaviors and social outcomes. They then describe what the current science-including genomewide association studies and polygenic indexes-can and cannot tell us, as well as its risks and potential benefits. They conclude with a discussion of responsible behavior in the context of SBG research. SBG research that compares individuals within a group according to a "sensitive" phenotype requires extra attention to responsible conduct and to responsible communication about the research and its findings. SBG research (1) on sensitive phenotypes that (2) compares two or more groups defined by (a) race, (b) ethnicity, or (c) genetic ancestry (where genetic ancestry could easily be misunderstood as race or ethnicity) requires a compelling justification to be conducted, funded, or published. All authors agree that this justification at least requires a convincing argument that a study's design could yield scientifically valid results; some authors would additionally require the study to have a socially favorable risk-benefit profile.

Getting genetic ancestry right for science and society.

We must embrace a multidimensional, continuous view of ancestry and move away from continental ancestry categories.

Race, populations, and genomics: Africa as laboratory.

Much of the recent debate over race, genetics, and health has focused on the extent to which typological notions of race have biological meaning. Less attention, however, has been paid to the assumptions about the nature of "populations" that both inform contemporary biological and medical research and that underlie the concept of race. Focusing specifically on Africa in the 1930s and 1940s, this paper explores the history of how fluid societies were transformed into bounded units amenable to scientific analysis. In the so-called "Golden Age of Ethnography," university-trained social anthropologists, primarily from Britain and South Africa, took to the field to systematically study, organize, and order the world's diverse peoples. Intent on creating a scientific methodology of neutral observation, they replaced amateur travelers, traders, colonial administrators, and missionaries as authoritative knowledge producers about the customs, beliefs, and languages of indigenous peoples. At the same time, linguists were engaged in unifying African languages and mapping language onto primordial "tribal" territories. We argue that the notion of populations or "tribes" as discrete units suitable for scientific sampling and classification emerged in the 1930s and 1940s with the ethnographic turn in social anthropology and the professionalization and institutionalization of linguistics in Western and South African universities. Once named and entered into international atlases and databases by anthropologists in the U.S., the existence of populations as bounded entities became self-evident, thus setting the stage for their use in large-scale population genetic studies and the contemporary reinvigoration of broad claims of difference based on population identification.

The use of race variables in genetic studies of complex traits and the goal of reducing health disparities: a transdisciplinary perspective.

The use of racial variables in genetic studies has become a matter of intense public debate, with implications for research design and translation into practice. Using research on smoking as a springboard, the authors examine the history of racial categories, current research practices, and arguments for and against using race variables in genetic analyses. The authors argue that the sociopolitical constructs appropriate for monitoring health disparities are not appropriate for use in genetic studies investigating the etiology of complex diseases. More powerful methods for addressing population structure exist, and race variables are unacceptable as gross proxies for numerous social/environmental factors that disproportionately affect minority populations. The authors conclude with recommendations for genetic researchers and policymakers, aimed at facilitating better science and producing new knowledge useful for reducing health disparities.