Demographic diversity of genetic databases used in Alzheimer’s disease research

• Published in: Human genetics Vol. 142; no. 8; pp. 1215 - 1220
• Main Authors: Field, Robert I., Orlando, Anthony W., Rosoff, Arnold J.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.08.2023; Springer; Springer Nature B.V
• Subjects: Alzheimer disease; Alzheimer's disease; Analysis; Biomedical and Life Sciences; Biomedicine; Demography; experts; Gene Function; genetic databases; Genetic diversity; genetic variation; Genome-wide association studies; genome-wide association study; Genomes; Genomics; Human Genetics; Medical research; Medicine, Experimental; Metabolic Diseases; Molecular Medicine; Neurodegenerative diseases; Online databases; Original Investigation; regression analysis; temporal variation
• ISSN: 0340-6717; 1432-1203; 1432-1203
• DOI: 10.1007/s00439-023-02551-3

For several years, experts have warned about the lack of diversity in genetic research databases, and researchers have devoted time and resources to recruiting subjects from underrepresented subgroups. In this study, we review published reports in academic journals of genetic studies of Alzheimer’s disease to note whether demographic diversity was indicated in the reports and, if so, the extent of representation of non-European subjects over the period from 1997 to 2022. We use multivariate regression analysis to analyze changes over time and to explain variation across studies. Our analysis indicates that reported diversity has not changed over time. Rather, it appears to have remained relatively constant, since Genome-Wide Association Studies (GWASs) were first used in the 1990s. We find most variation to be across journals rather than within journals, suggesting that characteristics of journals are an important influence on the dissemination of research with diverse samples. Lack of racial diversity in genetic databases used to develop clinical applications could lead to disparities in the effectiveness of those applications for underrepresented groups.