Scientists call for increased diversity in genomic research

A growing number of genomic studies have generated important discoveries regarding human health and behaviour, but new research from the University of Oxford suggests that scientific advancement is limited by a lack of diversity. The findings show that the people studied in genetic discovery research continue to be overwhelmingly of European descent, but also for the first time reveal that subjects are concentrated in a handful of countries - the UK, US and Iceland, and have specific demographic characteristics. The authors caution that this lack of diversity has potentially huge implications for the understanding and applications of genetic discoveries. The study published in Communications Biology contributes to a richer understanding of a multitude of facets which shape genomic bias over time. The work reviewed nearly 4,000 scientific studies between 2005 and 2018, curated by the NHGRI-EBI GWAS Catalogue, which contains all Genetic-Wide Association Studies (GWAS) to date. Despite a staggering growth in sample sizes, the number of traits and diseases studied and genetic discoveries, findings from the study reveal that ancestral diversity has stalled and that non-white groups are still massively under-represented. By extending research in this area they show that this has varied considerably over time and that when non-European ancestry groups are included, it is often only to 'replicate' results, as opposed to fundamental new genetic discoveries.