Professor Melinda Mills, MBE, FBA, Nuffield Professor of Sociology, Department of Sociology, University of Oxford, told us that while the researchers already knew that genetic discovery was largely from European ancestry populations, perhaps the most surprising finding was that a “remarkable” 72% of people used in genetic discoveries came from three countries: The UK (40%), US (19%), and Iceland (12%).
Mills called this discovery striking, considering that 76% of the world's population lives in Asia and Africa, while Iceland has just over 300,000 people – and constitutes 11.5% of the population in genetic discoveries. “No one had previously looked at the geographical location of the people studied,” she said.
The researchers also were surprised to find that the data was less demographically diverse, “or in other words, more often included older people, healthy, higher socioeconomic status and more women,” Mills explained.
“Considering the fact that genetic discoveries are often used a basis for drug development, acknowledgment of this lack of diversity is increasingly urgent."
The aim of the research was to conduct the first empirical review of all genetic discoveries, called genome-wide association studies (GWAS).
A ‘tight-knit group of researchers’
Additionally, the study examined the network of researchers themselves – a group that Mills said had never been studied.
“We showed a tight-knit group of researchers that often held key datasets but also strong gender imbalance with 70% of senior last author positions held by men,” she explained.
The researchers used data from the NHGRI-EBI GWAS Catalog, a collection of all published genome-wide studies (GWS) containing 13 years of GWAS discoveries from March 2015 to October 2018. The catalog was linked to PubMed and GWAS samples also were compared to world population data from the United Nations population lab.
“We used a computational approach to analyze the data but also manually extracted and coded the most commonly used datasets, which covers around 85% of all GWAS by cumulative sample size,” Mills explained.
While Mills noted that previous studies suggested ancestral diversity was becoming more equal, the researchers proved this is not the case by examining change over time (see table below).
The researchers provided ten policy recommendations, including prioritization of multiple types of diversity, including ancestral, geographical, environmental, temporal, and demographic. They also stressed the need to recognize the effect that the lack of diversity has on research findings.
Additionally, Mills said diversity or gaps in research should be monitored, with funding sanctions and consequences. This, in addition to careful interpretation of genetic differences between ancestral groups, as well as local participation and researcher involvement in under-represented communities.
Source: Communications Biology
DOI: https://doi.org/10.1038/s42003-018-0261-x
A scientometric review of genome-wide association studies
Authors: Melinda C. Mills & Charles Rahal