Using Population Descriptors in Genetics and Genomics Research A New Framework for an Evolving Field (2023) / Chapter Skim
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4 Requisites for Sustained Change
4 Requisites for Sustained Change
Pages 101-114
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From page 101... ...
The consequences of failing to intentionally confront these topics are grave. Recognizing this, the committee has prioritized addressing typological thinking, environmental factors, and community engagement in its proposed framework for transforming the use of population descriptors in genetics and genomics research.
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From page 102... ...
. In providing the following conclusions and three recommendations, the committee intends to draw attention to pervasive aspects of typological thinking and especially problematic terminology.
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Using socially constructed groupings indiscriminately in human genetics research can be harmful. Their use reinforces the misconception that differences in social inequities or other factors are caused by innate biological differences and diverts attention from ad dressing the root causes of those social differences, which compromises the rigor and potential positive effect of the research.
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From page 104... ...
. Even so, the required uses of OMB and other typological categories for certain reporting purposes need not dictate their use as analytical tools in human genomics research.2 If nothing else, the OMB categories are impractical because they change over time in the wake of administrative decisions and cultural shifts.3 Instead, the committee recommends that to evoke respect and beneficence, researchers who identify race as a valid population descriptor in a given study should reflect carefully on (1)
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From page 105... ...
. The critical importance of identifying environmental effects is that they improve or even alter researchers' understanding of the causal pathways to human genetic disease, thereby curtailing the common practice of assuming genetic causes for unexplained population differences in outcomes (Duello et al., 2021)
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These recommendations are supported by the guiding principles of equity and justice, validity and reproducibility, and transparency and replicability. To promote validity and reproducibility, genetics and genomics researchers should collaborate with experts in the social sciences, epidemiology, environmental sciences, or other relevant disciplines if they are unsure about whether or how to include environmental variables in their studies.
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From page 107... ...
, the Centers for Disease Control and Prevention and National Institute for Occupational Safety and Health's resources on exposome and exposomics,5 PhenX Toolkit,6 and the All of Us Research Program's survey questions.7 In future studies that collect new data, investigators should collect rich information on environmental exposures and social contexts. Some examples of information to collect may include geospatial data, socioeconomic position, dietary practices, education, and frequency of medical care.
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From page 108... ...
Community engagement goals will vary depending on the research question, the participating community, and the researchers. Community engagement processes are diverse, and partners can include various organized groups such as agencies, institutions, or individuals (CTSA Consortium, 2011)
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From page 109... ...
. Effectively engaging communities requires multidisciplinary approaches that draw on expertise in history, sociology, anthropology, communication, and other fields working alongside the study's primary investigators in genetics and genomics (CTSA Consortium, 2011)
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From page 110... ...
Integrating team members who have knowledge and understanding of community perspectives early in study conception and throughout the research process is critical for achieving the goals of trustworthy science. Respect is demonstrated through the inclusion of the community in the decision-making and study design processes when either collecting new data or using legacy data and by seeking information directly from the community.
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Consortium, and Community Engagement Key Function Committee Task Force on the Principles of Community Engagement.
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2008. The ethics of characterizing difference: Guiding principles on using racial categories in human genetics.
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From page 113... ...
American Journal of Public Health 100(Suppl 1) :S40-S46. Weiss, K
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