Using Population Descriptors in Genetics and Genomics Research A New Framework for an Evolving Field (2023) / Chapter Skim
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Pages 147-162
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American Journal of Human Genetics 101(1)
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2022. Challenges and opportuni ties for developing more generalizable polygenic risk scores.
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Instead of standardization of population descriptors, I think we ought to spend much more time in our genome science collecting data about culture, social experience, social status, and environmental exposures. I think if we have good measures of those things, we're much more likely to have replicable genome science.
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In this chapter, the focus is on the other relevant parties who are equally responsible in effecting lasting change in how population descriptors are used in genetics and genomics research. It will be evident that all of these recommendations and strategies also involve or affect research scientists.
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. Moreover, research staff responsible for recruitment may guess or assume population labels for the study participants (Borrell et al., 2021)
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By working collaboratively with study participants, researchers will better understand the identities, cultures, traditions, and practices of communities, thus improving the understanding of the types of infor mation that should and could be collected for a strong study where the outcomes could, in turn, have the ability to improve the health of the communities who participate. Funders of Genetics and Genomics Research Funding agencies and organizations can play a major role in changing how population descriptors are used.
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For example, currently, researchers are not required to explain why a certain category of population descriptors was chosen and how they will be treated in statistical analysis, nor is this systematically evaluated in the study section. Desirable change would be greatly motivated if a study section were to consider how researchers intend to use population descriptors during the procedural checks for human research protocols.
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That is, the need and rationale for reporting to funding agencies is distinct from how researchers design their study and analyze their data. In the latter cases, researchers should use the most appropriate population descriptors for the questions they are probing instead of using the OMB categories reflexively.
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As such, "getting published" can be a powerful incentive, so journal editors have leverage that could encourage researchers, and perhaps other entities within the research ecosystem such as research institutions, to change how they understand and use descent-associated population descriptors. For example, a journal could adopt the recommendations in this report by creating editorial review checks to ensure that authors whose papers are sent out for peer review have adhered to these recommendations.
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• Is a scientific justification provided for collection of population descriptor data? • Are population descriptors being used as proxies for environmental variables?
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In addition, researchers could be required to complete training about the use of population descriptors before engaging in research with human participants and before being granted access to data sets. NIH's All of Us Research Program requires training on "responsible and ethical research" prior to using the Researcher Workbench (All of Us, 2022)
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One way to facilitate this partnership is for the press offices of research institutions to receive training on best practices for the use of population descriptors, since it is typically the people in these offices who interact directly with scientists to translate their research findings and technical terminology into language that is understandable by the general public while retaining the accuracy and nuances of the science. In addition, researchers should be trained to produce easily understandable summaries of their research findings that properly convey the subtleties of using population descriptors in genomics research.
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Funding agencies, research institutions (including associated institutional review boards and other activities with research participants) , research journals, professional societies, and lay media professionals should evaluate their processes and structures related to the use of population descriptors in genomics research and report to their communities whether or not they are facilitating the recommendations in this report.
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The recommendations in this report have been developed from the committee's collective experience researching, writing about, and using population descriptors. But there is more that can be done to understand how population descriptors are used in genetics and genomics research and the effects that these descriptors have in medicine and in health disparities studies.
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Such advisory groups could: • periodically reevaluate established best practices on the use of descent-associated population descriptors to ensure they reflect the current state of the science and ongoing commitment to ethical and empirical principles; • advise funders and other relevant parties on the use of popula tion descriptors and their implementation; • facilitate the coordination of international best practice sharing; • provide a venue for input from the broader community, includ ing research participants; and • monitor and measure changes adopted by funders, research ers, journals, societies, and other relevant parties based on the uptake of best practices identified. PARTING THOUGHTS Despite the many recommendations, guidelines, and strategies promoting the ethically and empirically sound use of descent-associated population descriptors, there has been relatively little change in how any entities within the genetics and genomics research ecosystem use these descriptors or require them to be used.
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2021. Race and genetic ancestry in medicine -- A time for reckoning with racism.
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