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.

Contents

• The National Academies of SCIENCES • ENGINEERING • MEDICINE
• COMMITTEE ON THE USE OF RACE, ETHNICITY, AND ANCESTRY AS POPULATION DESCRIPTORS IN GENOMICS RESEARCH
• Reviewers
• Acknowledgments
• Preface
• Abbreviations
• Summary
  • STUDY CHARGE
  • GUIDING PRINCIPLES FOR THE USE OF POPULATION DESCRIPTORS
  • RECOMMENDATIONS FOR THE USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH
• SECTION I. PAST AND CURRENT USE OF POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH
  • 1. Population Descriptors in Human Genetics Research: Genesis, Evolution, and Challenges
    • THE STUDY OF HUMAN GENETIC VARIATION
    • WHAT IS A STUDY USING GENETIC INFORMATION TRYING TO ACCOMPLISH?
    • CLASSIFICATION OF GENOMICS STUDY TYPES
    • FEATURES OF HUMAN GENOME VARIATION
    • POPULATION CLASSIFICATION SCHEMES IN GENETICS AND GENOMICS RESEARCH
    • ATTEMPTS TO ADDRESS THE USE OF RACE, ETHNICITY, AND ANCESTRY IN THE GENOMIC ERA
    • WHY IS THIS STUDY IMPORTANT? WHY ANOTHER STUDY? WHY NOW?
    • WHAT IS THE GOAL OF THIS REPORT?
    • REFERENCES
  • 2. A Multiplicity of Descriptors in Genetics and Genomics Research
    • INTRODUCTION
    • A RANGE OF DESCENT-ASSOCIATED POPULATION DESCRIPTORS
    • THE IMPORTANCE OF ENVIRONMENTAL FACTORS IN GENETICS AND GENOMICS RESEARCH
    • REFERENCES
• SECTION II. RECOMMENDATIONS
  • 3. Guiding Principles
    • INTRODUCTION
    • PRINCIPLES
    • SYNERGY AMONG AND TENSION BETWEEN GUIDING PRINCIPLES
    • REFERENCES
  • 4. Requisites for Sustained Change
    • INTRODUCTION
    • TYPOLOGICAL THINKING
    • ENVIRONMENTAL FACTORS
    • COMMUNITY ENGAGEMENT
    • REFERENCES
  • 5. Guidance for Selection and Use of Population Descriptors in Genomics Research
    • INTRODUCTION
    • THE IMPORTANCE OF TRANSPARENCY AND SPECIFICITY WHEN SELECTING AND REPORTING POPULATION DESCRIPTORS
    • CONCLUSION AND RECOMMENDATIONS
    • TOOLS FOR SELECTING AND USING POPULATION DESCRIPTORS IN GENETICS AND GENOMICS RESEARCH
    • CONSIDERATIONS FOR HARMONIZATION OF POPULATION DESCRIPTORS ACROSS STUDIES
    • REFERENCES
  • 6. Implementation and Accountability
    • INTRODUCTION
    • IMPLEMENTATION ACROSS THE GENOMICS RESEARCH ECOSYSTEM
    • RECOMMENDATIONS
    • MECHANISMS OF ACCOUNTABILITY
    • PARTING THOUGHTS
    • REFERENCES
• A. Study Approach and Methods
• B. Glossary
• C. Table of International Programs
• D. Decision Tree for the Use of Population Descriptors in Genomics Research
• E. Committee and Staff Biosketches
• F. Disclosure of Unavoidable Conflict of Interest

Suggested citation:

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. https://doi.org/10.17226/26902.

Digital Object Identifier: https://doi.org/10.17226/26902

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