THE IMPORTANCE OF STUDYING MANY POPULATIONS IN GENETIC RESEARCH
- Humans share nearly all of their genomes (~99%) with each other. The remaining 1% is small, but consequential. By studying populations of varying genetic ancestries we learn more about how individuals differ in their genetics, and how this contributes to psychiatric disorders.
- Research studies are identifying genetic variants associated with psychiatric and substance use disorders.
- Most of the genetic variations that contribute to risk for these psychiatric conditions are also shared. Some individuals have more of the variants that increase risk, others fewer.
- Some variants are more common among individuals who share a particular genetic ancestry. Some genetic variants might be common in certain populations, and rare in others, and some variants might not have the same effect in two different populations. So studying individuals from many ancestries is important if we want to identify the range of variants that affect a condition. This will lead to better understanding of the biology of health and diseases for all humankind and allow for precision medicine.
- Research teams that are rich in global representation have been shown to produce more innovative and accurate results. Increasing representation within the scientific workforce may also help build trust with participants and lead to broader and more globally representative participation in studies.
- The Psychiatric Genomics Consortium (PGC) has committed to increasing ancestral representation in its studies. A dedicated Cross-Population Working Group has been formed to support these goals through collaboration, outreach, and development of new methodologies.
Additional reading:
- Peterson RE, Kuchenbaecker K, Walters RK, et al. Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations. Cell. 2019;179(3):589-603. doi:10.1016/j.cell.2019.08.051 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6939869
- Martin AR, Kanai M, Kamatani Y, et al. Current clinical use of polygenic scores will risk exacerbating health disparities. Nat Genet. 2019 April ; 51(4): 584–591. doi:10.1038/s41588-019-0379-x
- Building the future of health research. A consensus document of the H2020 Scientific Panel for Health. https://www.biomedeurope.org/wp-content/uploads/2024/09/Building_the_future_of_health_research_SPH_22052018_final.pdf
