Since the sequencing of the first human genome, over 30,000 disease-associated variants have been identified, the majority through genome-wide association studies. While these advances in our understanding of how genetics contribute to disease risk are now being used to inform translational research, including development of therapeutics and genetic risk screening, large-scale genetic studies have primarily used only genomes with European ancestry. If this pattern continues, advances in genetics will be limited, with the ensuing risk that therapeutic innovations leave out large segments of the global population. In addition, genetic risk scores, having been developed primarily on European genomes, do not translate to other populations, thus leading to many false positives and negatives. Expanding study collections to other populations will help alleviate some of these disparities, however without engaging scientists and physicians on all levels and providing them with the knowledge and skills necessary to perform these studies in their populations, there is a significant risk that the findings will again result in a widening of the massive research and treatment gaps with the rest of the world.
Using research on major mental health disorders, including schizophrenia and psychosis as examples, this talk will discuss work being done in the Neuropsychiatric Genetics of African Populations-Psychosis (NeuroGAP-Psychosis), a study which began collection in 2018 and aims to collect DNA and phenotypic data from over 17,000 cases (schizophrenia and bipolar disorder) and 17,000 controls from Ethiopia, Kenya, South Africa and Uganda. I will present preliminary findings and highlight the development and implementation of a partner-training and capacity-building program, the Global Initiative for Neuropsychiatric Education in Research (GINGER), which focuses on building the next generation of computational genetics researchers in East and South Africa.
Lori Chibnik, Ph.D., M.P.H., is a biostatistician and assistant professor with an appointment in the Department of Neurology at Massachusetts General Hospital and the Department of Epidemiology at the Harvard T.H. Chan School of Public Health.