Global Genomics and Health Equity: Challenges and Opportunities

This session will focus on opportunities, challenges and ethical issues related to studying ethnically diverse populations to improve discovery and health equity in genomic medicine. Here we gather scientists from across the globe with experience in conducting genomic research in populations under-represented in human genetics research. 

Speakers will address research on genetic risk factors for medical phenotypes of particular relevance to the study populations. We will also discuss ethical, social, and legal issues (ELSI) that arise when conducting genomic research in Indigenous communities, ways in which we can achieve more inclusive and equitable research, and ensure benefit sharing. We will have four 15-minute presentations followed by a 30 minute panel discussion. 

Our session will start with a presentation discussing studies of pharmacogenetic variation in Indigenous peoples from South America and implications for personalized medicine in these populations. Our second speaker will describe results of a multi ethnic genome wide association study (GWAS) of Differentiated Thyroid Cancer (DTC) in Melanesians from New Caledonia and Polynesians from French Polynesian, two populations with the highest incidence of DTC worldwide. The speaker will illustrate the impact of genetic studies of DTC risk on community health in Oceanian populations. The next speaker will follow on the promising future for genetic discovery that can be achieved by studying African populations that have high levels of genomic and phenotypic diversity. This speaker will also illustrate how the study of ethnically diverse African populations has shed light on the genetic basis of hearing impairment, resulting in identification of multiple novel genes influencing hearing loss. Our last speaker will discuss ethical perspectives and the challenges of conducting genomic research in Indigenous populations from North America, the potential benefit for personalized medicine, and the importance of creating a partnership with Indigenous communities. 

The panel discussion, which will include the two moderators and audience participation, will focus on how studies of ethnically diverse populations are of benefit to the global medical genetics community. We will further discuss ethical issue that arise from consequences of research that stigmatizes Indigenous communities and will touch base on principals of how to conduct research in minority and Indigenous populations in an ethical manner.

Recorded session from the 2021 virtual meeting.