Genomic Data Diversity

This theme aims to convene leaders, enthusiasts and institutions across the world to address the root causes and end result of poor genomic data diversity.

To date, studies of human genetics have largely focused on populations from European ancestries, which has contributed to
a world where the benefits of genomic healthcare are not shared equally. The overrepresentation of populations from ‘WEIRD’ societies (Western, Education, Industrialised, Rich and Democratic) in genomic databases has resulted in the misdiagnosis of gene-disease relationships, limited the generalisability of findings from genomic research, and reduced the evidence base for translating these findings into clinical care for all populations.
 To address this historical gap, we must all collaborate more effectively to work across the whole pipeline of genomic research and health care delivery, from the populations we work with and the data we collect, to the analyses we carry out and the availability of genetic testing. We expect this to increase our understanding of human history, biology, and health disparities, as well as discoveries relevant for health care delivery. This theme will focus on ensuring best practice in improving genomic data diversity is being curated, developed and shared across the global genomic ecosystem. From developing sub-population reference genomes, to understanding how to best work with historically excluded communities to improve trust and encourage better engagement in sequencing initiatives.

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