Rethinking Population Descriptors in Genetics and Genomics Studies

Guest blog by Vence L. Bonham, Jr., J.D., Acting Deputy Director, National Human Genome Research Institute and Sheri Schully, Ph.D., Deputy Chief Medical and Scientific Officer, All of Us Research Program Sheri Schully, Ph.D., Deputy Chief Medical and Scientific Officer, All of Us Research Program Vence L. Bonham, Jr., J.D., Acting Deputy Director, National Human Genome Research Institute For decades, socially constructed population descriptors such as race, ethnicity, and ancestry have been used as a proxy to describe human diversity but do not accurately capture the full scientific scope of diversity, and their definitions have changed over time. For example, genetics and genomics researchers have mistakenly used these descriptors to describe human genetic variation. This practice is outdated and needs replacement moving forward. Assuming that biological or genetic differences relate directly to racial or ethnic categories can lead to false scientific conclusions and perpetuate bias. Misuse of population descriptors has harmed marginalized groups and promoted scientific racism. These limitations in existing population descriptors in genetics and genomics led 14 NIH Institutes, Centers, and Offices to sponsor the National Academies of Science, Engineering, and Medicine (NASEM) to establish an interdisciplinary committee of experts and explore the issue. Over the last year, the committee assessed the benefits, challenges, and existing methodologies in the use ...
Source: NIH Extramural Nexus - Category: Research Authors: Tags: blog Open Mike Diversity genomic data sharing Inclusion Research integrity Source Type: funding