Increasing Diversity in Genetic Databases: Lessons Learned from 20 Years of Slow Progress

ELSIcon2024 • Paper • June 12, 2024 

Authors: 

Speaker: Robert I. Field, JD, MPH, PhD - Drexel University 

With the rapid progress in developing tools of precision medicine that rely on patient genotypes, it is ever more important to assure that as diverse a population as possible is represented in genomic databases used for research. Without it, genetic features of some subgroups are likely to be missed, which can limit the effectiveness of interventions for their members. The need for broader representation has long been recognized, and steps have been taken to address its absence, but we are still a long way from achieving the level of broad representation that is needed.
In this presentation, we chart the slow progress the field has made toward a vision of broad representation, and we identify practices that could further increase it. First, we present quantitative evidence from a comprehensive systematic review we conducted of genetic research published on Alzheimer’s disease over the past 20 years (142 Hum. Genet.</em> 1215-1220 (2023)). We created a new dataset compiling the demographics of research subjects used in this literature, and we documented trends in demographic diversity across a variety of dimensions and definitions.
Second, we present qualitative findings drawn from a series of semi-structured interviews we are conducting with four categories of experts involved in genomic database research: researchers, journal editors, database managers at direct-to-consumer genetic testing companies, and database managers at academic and government institutions.
Based on findings from these two studies, the presentation will offer recommendations for further steps to increase the diversity of genomic databases.

At the bottom right corner of the video, you can click the “CC” button to display closed captions. You can also click the icon to the right of the “CC” button to display the transcript.