Table 1 Progress and challenges for achieving scientific promise of diversity and inclusion in genomics.
From: Evaluating the promise of inclusion of African ancestry populations in genomics
Area | Example of recent success | Remaining challenges |
|---|---|---|
Insights into human biology | New loci and new variants within known loci in large projects including African ancestry individuals | Number of included individuals remains relatively low Even with increasing numbers of diverse individuals, preferential analysis and reporting of EUR results, which have achieved even larger sample sizes Because of the diversity among AFR populations and the reduced linkage disequilibrium across the genome, studies of AFR individuals will require even greater sample sizes than EUR to properly interrogate variation present |
Improvements in clinical care | Identification of new pharmacogenomic loci relevant for individuals with African ancestry through consortia and new tools | Continued underrepresentation of non-European ancestry individuals in clinically important databases limits diagnostic accuracy for these individuals Need for more pharmacogenomic research in diverse populations Need for more data from which to derive polygenic risk scores specific to ancestry groups |
Improved understanding of health disparities | Identification of genetic variation that may be contributing to “racial” differences in disease-relevant traits | Identifying appropriate biomarkers, genetic variants, and/or environmental factors for distinguishing risk instead of race categories |
Infrastructure to include diverse voices | Infrastructure development within H3Africa to support the full participation of African scientists in high-level genomic research | Sustainability of current initiatives will require further commitment on the part of funding agencies and governments |
Overcoming technological challenges | Development of a genotyping array for improved interrogation of genetic variation present in populations with primarily African ancestry | Analysis of populations of diverse and admixed ancestral backgrounds may require the development of novel techniques |
Development of ethical guidelines | Development of ethical guidelines and training modules related to conducting genomic research through the H3Africa initiative | Sustaining mature and informed institutional review boards and ethics committees to address ethical issues that arise with the expansion of genomic research in Africa will require continued efforts |
