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.

Table of Contents

Front Matter Summary 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 2 A Multiplicity of Descriptors in Genetics and Genomics Research SECTION II: RECOMMENDATIONS 3 Guiding Principles 4 Requisites for Sustained Change 5 Guidance for Selection and Use of Population Descriptors in Genomics Research 6 Implementation and Accountability Appendix A: Study Approach and Methods Appendix B: Glossary Appendix C: Table of International Programs Appendix D:Decision Tree for the Use of Population Descriptors in Genomics Research Appendix E: Committee and Staff Biosketches Appendix F: Disclosure of Unavoidable Conflict of Interest