Using Population Descriptors in Genetics and Genomics Research A New Framework for an Evolving Field (2023) / Chapter Skim
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Pages 101-112
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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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The objective of the committee was not to provide an improved nomenclature or vocabulary but to challenge misconceptions and push the dialogue forward. Anyone working in this area must think carefully and make judgments with clear rationale as to which population descriptors (or classification schemes)
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Researchers should not use race as a proxy for human genetic variation. In particular, researchers should not assign genetic ancestry group labels to individuals or sets of individuals based on their race, whether self-identified or not.
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To promote validity through the use of accurate descriptors, the committee does not advocate the use of typological categories, such as the racial and ethnic categories established by the OMB in its Statistical Directive 15, for most purposes in human genomics research (see Chapter 5 for more specific guidance on the use of population descriptors)
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To adhere to equity and justice, alternative procedures that do not assume discrete continental ancestries are more valid and conceptually coherent; such alternatives are preferable and have the benefit of not reifying race. In Chapter 5, recommended use for specific population descriptors will be explored in greater detail.
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Recommendation 4. Researchers conducting human genetics studies should directly evaluate the environmental factors or exposures that are of potential relevance to their studies, rather than rely on population descriptors as proxies.
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, 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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Community engagement can be a challenging and labor-intensive process, requiring resources including time, dedicated funding, and people with the necessary knowledge and skills (CTSA Consortium, 2011)
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Frequently, descent-associated population descriptors (such as race) are assigned to samples by a researcher or clinician, leaving individuals and communities out of the conversations about what labels are applied to or preferred for their data (Lemke et al., 2022)
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Validity and reproducibility are instituted by including the expertise of communities in determining the valid use of population descriptors and the risks and benefits associated with the research. Researchers should also partner with experts on engagement approaches to ensure community engagement occurs in a culturally sensitive way.
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American Journal of Human Genetics 105(4)
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2008. The ethics of characterizing difference: Guiding principles on using racial categories in human genetics.
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