Enhancing Large-Scale Pharmacogenetic Studies in African Populations for Clinical Care and Drug Development.

Abstract

African populations remain largely underrepresented in genomic studies despite their high genetic diversity. The significant variability in drug efficacy and toxicity across different ancestry populations should trigger more diversified and inclusive pharmacogenomic (PGx) studies. Non-European populations, especially Africans, remain largely underrepresented in GWASs and other genomic studies despite their high genetic diversity, which holds information critical for better understanding drug-related toxicity and enhancing the development of new drugs. Therefore, studies using population genetic clustering, polygenic risk scores, high-throughput organoid models, and multiomics analysis are urgently needed in African populations to enhance pharmacogenomics and drug development globally. For instance, studies of loss-of-function mutations in PCSK9, commonly found in populations of African descent, have led to the development of PCSK9 inhibitors, which are used globally to reduce hypercholesterolemia and cardiovascular disease risk. More studies on diverse African populations could elevate PGx, drug development, and therapeutics as illustrated by the PCSK9 example.