The National Academies Press

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From page 1... ... . Researchers have frequently used population descriptors as a shorthand for capturing the continuous and complex patterns of human genetic variation resulting from history, migration, and evolution. Read the entire page →
From page 2... ... , asked the National Academies to conduct a study to review and assess existing methodologies, benefits, and challenges in using race, ethnicity, ancestry, and other population descriptors in genomics research.2 The statement of task emphasizes the use of appropriate and valid population descriptors in genomics research, and focuses on understanding the current use of population descriptors in genomics research; examining best practices for researchers in the use of race, ethnicity, and ancestry as population descriptors; and identifying how best practices in the use of population descriptors could be widely adopted within the biomedical and scientific communities to strengthen genetics and genomics research.3 To accomplish this task, the 2 The full statement of task is presented in Chapter 1 along with a discussion of what was in and out of scope. 3 The statement of task also identified four areas that are beyond the scope of this commit tee's recommendations: examining the use of race and ethnicity in clinical care; examining racism in science and genomics; examining the use of race and ethnicity in biomedical research generally (e.g., beyond genetics and genomics research) 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 genetic 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... ... , and implementation that includes relevant parties supporting researchers and promoting change throughout the genomics research ecosystem (Chapter 6) Read the entire page →
From page 7... ... 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. Requisites for Sustained Change The committee identified three overarching approaches that are paramount to the long-term success of any effort to resolve the challenging problems surrounding the use of population descriptors in genetics and genomics research: avoiding typological thinking, including environmental factors in study design, and engaging communities. Read the entire page →
From page 8... ... 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. Recommendation 2. When grouping people in studies of human genetic variation, researchers should avoid typological thinking, including the assumption and implication of hierarchy, homogeneity, distinct catego ries, or stability over time of the groups. Read the entire page →
From page 9... ... Conversely, failing to engage and understand communities and relevant parties can undermine trust and trustworthiness of research, diminish public acceptance of the veracity of research results, and importantly, fail to deliver the research outcomes effectively to the communities whom researchers are trying to serve. Effectively engaging communities requires multidisciplinary approaches that draw on expertise in history, sociology, demography, anthropology, communication, and other areas. Read the entire page →
From page 10... ... Guidance for the Selection and Use of Population Descriptors in Genetics and Genomics Research Because research conducted using genomics 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 population descriptor depends on the scientific question that is being addressed. Consideration of the different purposes of genetics research gave rise to seven major types of genomics studies, covering both disease and nondisease traits,6 to serve as a basis for the development of recommended best practices: 1. 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... ... 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. Recommendation 12. Read the entire page →
From page 16... ... Because the understanding of population descrip tors in genomics research is continuously evolving, responsibility for periodic reevaluation of these recommendations should be overseen by effective, multidisciplinary advisory groups. The 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 an ongoing commitment to ethical and empirical principles; • advise funders and other interested parties on the use of popu lation 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. Read the entire page →

From page 1...

... . Researchers have frequently used population descriptors as a shorthand for capturing the continuous and complex patterns of human genetic variation resulting from history, migration, and evolution.

Summary Pages 1-16

Summary
Pages 1-16