Our Co-Chief Scientific Officers Saumya Jamuar and Jonathan Picker discuss the latest analysis showing that more than three quarters of genomes in genome-wide association studies (GWAS) are from people of European descent, looking at the implications of this lack of diversity and the steps that are being taken to rectify the situation – including our own projects in Africa and India.
“One of the key steps in tackling this problem is to make sure that genetic databases include a broad diversity of genomes. Having background genetic information on different populations makes it easier to diagnose genetic conditions within the context of that population and develop more targeted care.
Even a seemingly small improvement can already make a difference. When researchers discovered that several patients with hypertrophic cardiomyopathy had received a wrong genetic diagnosis, they noted that the problem could have been avoided even if only 10 % of the control cohort had been of African descent.”