Shocking discovery shows how skewed genomics research is right now

7 Jan 2019

Image: © dusanpetkovic1/

Genomics research is flourishing right now, but new findings show it is heavily sourced from just a few largely white countries.

We’ve heard for years that there is an overwhelming problem with personnel diversity in the fields of science, technology, engineering and maths (STEM), but genomics research in particular is suffering for a similar but also quite different reason.

In a paper published to Communications Biology, a team of researchers from the University of Oxford has found that while genomic studies have generated important discoveries over the years, the subjects taking part in these studies are heavily concentrated in just a few countries. These include the UK, US and Iceland. If they remain the source of participants for most studies, there are potentially huge implications for the understanding and applications of genetic discoveries.

The research for this work involved the review of nearly 4,000 studies between 2005 and 2018 that contained all genetic-wide association studies to date, relating to diseases such as type 2 diabetes and Alzheimer’s as well as psychiatric disorders, and physical, behavioural and psychological traits.

The results showed that despite a staggering growth in sample sizes, diseases studied and genetic discoveries from studies during this time, the ancestral diversity stalled, with non-white groups still massively underrepresented.

By extending research in this area, the team showed that this has varied considerably over time and that when non-European ancestry groups are included, it is often only done so in order to ‘replicate’ results instead of trying to find new genetic discoveries.

Limiting research

The research found that 72pc of the often repeated genetic data came from the UK (40pc), the US (19pc) and Iceland (12pc). The data also features a higher-than-anticipated number of older people, women, and – in some of the most used data – people of higher socioeconomic status and in better health.

“The lack of ancestral diversity in genomic research has been an ongoing concern, but little attention has been placed on the geographical and demographic characteristics of the people who are studied, who studies them and exactly what they study,” said Prof Melinda Mills, lead author of the study.

“Genetic discoveries offer exciting medical possibilities, but, without increasing the diversity of people studied and environments they live in, the usage and returns of this research are limited.”

Once again returning to the problem of gender diversity in STEM, the researchers found that of the studies analysed, 70pc of authors in the senior ‘last author’ position were male. They also make a number of recommendations for future studies, including prioritising multiple types of diversity and strategies for monitoring diversity and warnings regarding the interpretation of genetic differences between ancestral groups.

Colm Gorey was a senior journalist with Silicon Republic