I was struck by a commentary published in Cell on 21 March, which illustrates an incredible imbalance in the population groups and participants that have contributed to genetic and genomic research over the last two to three decades.
A telling example is from Genome Wide Association Studies, which suggest that 78% of published research is derived from volunteers and participants from European ancestry whereas Africans only represent 2% and Asians 10%.
On a similar theme, I was privileged to attend a tremendous seminar by Peter Fonagy, Programme Director for Mental Health at UCLPartners, last week. An identical challenge exists in studies of mental disorders; the evolutionary psychiatrist Joe Henrich has coined it as the “WEIRD world”. This is where WEIRD stands for Westernised Educated Industrial Rich Democracies; which make up 12% of the global population. In the world of mental health research, 96% of subjects in psychological samples come from WEIRD countries. Furthermore, a randomly selected American undergraduate student is more than 4,000 times more likely to be a research participant than is a randomly selected person from outside of the West.
Of course, the Eurocentric nature of this selection often reflects markets. Clinically, however it is far more important. Over representation of European whites can lead to diagnostic and therapeutic uncertainty for people in other groups. The literature is abundant with examples that make a compelling case to consider the breadth of genetic ancestry: asthma (people from south American ancestry have the most asthma and the poorest response to some bronchi dilators); G6PD deficiency (affects 400 million people worldwide including 1 in 10 African Americans) and a recent report that approximately 20% of new drugs proved in the past several years have known racial/ethnic differences in disposition.
I was reflecting that there is an important message here in our quest to unite the UK’s health data to make discoveries to improve lives. There are some outstanding examples of UK studies that are addressing diversity. For example, the Born in Bradford Cohort led by John Wright, which benefits from the participation of 64% white British, 25% South Asian and 9% other patient subject groups; and the elegant East London Genes and Health led by David Van Heel, which is a huge long-term study of 100,000 people of Bangladeshi and Pakistan origin. These are important first steps in our quest to understand the importance of genetic variation and diversity in the UK. We need to learn from them as we consider how we enable the use of multi-modal health data in the UK and internationally to define the nature of health and disease across communities.