National Academies Press: OpenBook

Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field (2023)

Chapter: SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH

« Previous: Summary
Suggested Citation:"SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH." National Academies of Sciences, Engineering, and Medicine. 2023. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field. Washington, DC: The National Academies Press. doi: 10.17226/26902.
×
Suggested Citation:"SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH." National Academies of Sciences, Engineering, and Medicine. 2023. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field. Washington, DC: The National Academies Press. doi: 10.17226/26902.
×

This page intentionally left blank.

Suggested Citation:"SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH." National Academies of Sciences, Engineering, and Medicine. 2023. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field. Washington, DC: The National Academies Press. doi: 10.17226/26902.
×

SECTION I OVERVIEW

The use of individual and population descriptors in genetics research began with the emergence of human genetics as a science. Despite their importance, historically, such descriptors were never defined, rationalized, used consistently, or standardized. This section explores the early history and context of such descriptors in human genetics, how preferences for certain descriptors have changed over time, and why. Researchers have frequently used descent-associated population descriptors and labels, for individuals or groups, as a shorthand for capturing the continuous and complex patterns of human genetic variation across the globe. Of particular concern is the long-standing and continued use of race, and more recently ethnicity, as this shorthand. Race is a sociopolitically constructed designation, is a misleading and harmful surrogate for genetically based population differences, and has a long history of being incorrectly identified as the major genetic reason for phenotypic differences between groups. Chapters 1 and 2 address this history and consider why these problems have persisted, why another such study is warranted today, and why incorporating different measures of the environment is necessary to improve future genomics studies on traits that involve both genetic and environmental effects.

Suggested Citation:"SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH." National Academies of Sciences, Engineering, and Medicine. 2023. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field. Washington, DC: The National Academies Press. doi: 10.17226/26902.
×

This page intentionally left blank.

Suggested Citation:"SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH." National Academies of Sciences, Engineering, and Medicine. 2023. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field. Washington, DC: The National Academies Press. doi: 10.17226/26902.
×
Page 17
Suggested Citation:"SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH." National Academies of Sciences, Engineering, and Medicine. 2023. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field. Washington, DC: The National Academies Press. doi: 10.17226/26902.
×
Page 18
Suggested Citation:"SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH." National Academies of Sciences, Engineering, and Medicine. 2023. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field. Washington, DC: The National Academies Press. doi: 10.17226/26902.
×
Page 19
Suggested Citation:"SECTION I: PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH." National Academies of Sciences, Engineering, and Medicine. 2023. Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field. Washington, DC: The National Academies Press. doi: 10.17226/26902.
×
Page 20
Next: 1 Population Descriptors in Human Genetics Research: Genesis, Evolution, and Challenges »
Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field Get This Book
×
 Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field
Buy Paperback | $25.00 Buy Ebook | $20.99
MyNAP members save 10% online.
Login or Register to save!
Download Free PDF

Genetic and genomic information has become far more accessible, and research using human genetic data has grown exponentially over the past decade. Genetics and genomics research is now being conducted by a wide range of investigators across disciplines, who often use population descriptors inconsistently and/or inappropriately to capture the complex patterns of continuous human genetic variation.

In response to a request from the National Institutes of Health, the National Academies assembled an interdisciplinary committee of expert volunteers 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. The resulting report focuses on understanding the current use of population descriptors in genomics research, examining best practices for researchers, and identifying processes for adopting best practices within the biomedical and scientific communities.

READ FREE ONLINE

  1. ×

    Welcome to OpenBook!

    You're looking at OpenBook, NAP.edu's online reading room since 1999. Based on feedback from you, our users, we've made some improvements that make it easier than ever to read thousands of publications on our website.

    Do you want to take a quick tour of the OpenBook's features?

    No Thanks Take a Tour »
  2. ×

    Show this book's table of contents, where you can jump to any chapter by name.

    « Back Next »
  3. ×

    ...or use these buttons to go back to the previous chapter or skip to the next one.

    « Back Next »
  4. ×

    Jump up to the previous page or down to the next one. Also, you can type in a page number and press Enter to go directly to that page in the book.

    « Back Next »
  5. ×

    Switch between the Original Pages, where you can read the report as it appeared in print, and Text Pages for the web version, where you can highlight and search the text.

    « Back Next »
  6. ×

    To search the entire text of this book, type in your search term here and press Enter.

    « Back Next »
  7. ×

    Share a link to this book page on your preferred social network or via email.

    « Back Next »
  8. ×

    View our suggested citation for this chapter.

    « Back Next »
  9. ×

    Ready to take your reading offline? Click here to buy this book in print or download it as a free PDF, if available.

    « Back Next »
Stay Connected!