The National Academies Press

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From page 1... ... Many elements of racial thinking, including essentialism and biological determinism, have influenced modern thinking around human genetics, to the marginalization of some peoples and the benefit of others. 1 References are not included in this report summary. Read the entire page →
From page 2... ... Although the history of prior attempts to address population descriptors in genetics and genomics research -- and the lack of notable change -- may create some skepticism about the usefulness of another report aiming to create best practices for this complex area, this is a crucial moment to offer concrete guidance to the research community. STUDY CHARGE The study sponsor, the National Institutes of Health (NIH) Read the entire page →
From page 3... ... To support researchers making reasoned, deliberate choices in their selection of population descriptors, the description and discussion of each demonstrate what these concepts of human difference can -- or cannot -- capture in genetics studies. Although some genetics studies have used descriptors like race as proxies for genetic variation, some genetic epidemiologic studies rely on descriptors like race as proxies for cultural beliefs and practices or for shared environments, in the absence of direct measurements of these latter contextual factors. Read the entire page →
From page 4... ... Once a set is designated as a genetic ancestry group, its members are often assigned a geographic, ethnic, or other nongenetic label that is common among its members. Genetic similarity: quantitative measure of the genetic resemblance between individuals that reflects the extent of shared genetic ancestry. Read the entire page →
From page 5... ... Given the dynamic nature of research and the limitations of this report to fully capture the range of possible use cases in future genetics and genomics research, the guiding principles also provide a foundation and common vocabulary for researchers and other relevant parties to engage in future decision making for contexts that may not be addressed directly in this report. RECOMMENDATIONS FOR THE USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH Researchers in human genetics and genomics have often struggled with a lack of clear, specific guidance concerning the use of population descriptors. Read the entire page →
From page 6... ... The principles and recommendations are intended to provide the basis for a shared approach to grappling with the myriad potential uses of population descriptors in human genomics research worldwide. The recommendations focus on areas that the committee identified as necessary for achieving change, including employing strategies to improve research study design, promoting transparency, tailoring the use of population descriptors for the purpose of a study, and ensuring that researchers have the support needed to implement the recommended best practices. Read the entire page →
From page 7... ... While the use of these categories may be required of researchers under certain circumstances (for example, in describing participants in studies receiving federal funding) , the fundamentally sociopolitical origins of these categories make them a poor fit for capturing human biological diversity and as analytical tools in human genomics research. Read the entire page →
From page 8... ... If it is not possible to make these direct measurements and it is necessary to use population descriptors as proxies, researchers should explicitly identify how the descriptors are employed and explain why they are used and are relevant. Genetics and genomics researchers should collaborate with experts in the social 4 Johann Friedrich Blumenbach (1752–1840) Read the entire page →
From page 9... ... Guidance for the Selection and Use of Population Descriptors in Genetics and Genomics Research Because research conducted using genomic data is broad and varied, the committee concluded that there is no one-size-fits-all solution to the challenge of using population descriptors; rather, the appropriate popula Read the entire page →
From page 10... ... Responsive approaches are needed both to address the varied types of genomics studies and to accommodate community preferences and evolving conceptions of best practices for grouping individuals and naming those groups. Transparency in methodology is a scientific norm and the bedrock of replicability, yet the challenge of transparency is one of communicating specifically how and why particular decisions were made -- that is, stating the rationale behind the classification scheme and group labels applied when using population descriptors. The lack of both specific practices and transparent reporting can lead to confusion and a lack of comparability among data sets. Read the entire page →
From page 11... ... When communicating their research methods, findings, and conclusions, researchers should be as transparent as possible about the specific procedures used to name groups within their data sets. To enhance transparency in reporting, the committee's focus was the conceptual approaches and language that enable appropriate and accurate use of population descriptors in genetics and genomics research. Read the entire page →
From page 12... ... Genetic similarity between individuals is a quantitative measure of their genetic resemblance, reflective of the extent of their shared genetic ancestry. An analogy may be helpful for elucidating this distinction between a concept (genetic ancestry) Read the entire page →
From page 13... ... Many aspects of the current systems that fund, support, evaluate, and reward genomics research must change to better facilitate implementation of these recommendations. The genomics research ecosystem has many players, including funders of genetics and genomics research, professional societies, research journals, and research institutions, who all share responsibility for making these changes across an interdisciplinary research community (Chapter 6) Read the entire page →
From page 14... ... 5 text and the E Descriptors could be used if appropriate decision tree in Appendix D proxies for environmental, not genetic, effects Indigeneity Geography Ethnicity/ Similarity Ancestry Genetic Genetic Race Notes GENOMICS STUDY TYPE Similarity suffices as a genetic 1: Gene Discovery Mendelian Traits � ? Read the entire page →
From page 15... ... Recommendation 11. Given the persistent need to address this dynamic, high-stakes component of genomics research, funders and research institutions should create new initiatives to advance the study and methods development of best practices for population descriptor usage in genetics and genomics research, including the public availability of resources. Read the entire page →
From page 16... ... It will take a concerted effort by all relevant parties, patience, and a good bit of time to reach a place where the proper use and reporting of population descriptors is routine and consistent. The recommendations in this report will need to be implemented broadly and consistently, by all the relevant parties, to generate lasting change. Read the entire page →

From page 1...

... Many elements of racial thinking, including essentialism and biological determinism, have influenced modern thinking around human genetics, to the marginalization of some peoples and the benefit of others. 1 References are not included in this report summary.

Summary Pages 1-16

Summary
Pages 1-16