Lack of diversity in genome studies means that treatments derived from them are leaving people of colour behind. Changing that isn’t only about justice – it could also lead to new therapies that would otherwise go undiscovered
20 January 2021
IF YOUR doctor suspects you might have type 2 diabetes, they will want to know your average blood sugar level, which typically means taking a glycated haemoglobin test. This method of diagnosis is recommended by the World Health Organization and used pretty much everywhere. The problem, as Deepti Gurdasani discovered in 2019, is that the test may not work for everyone.
Gurdasani and her colleagues found that a gene variant present in almost a quarter of people with sub-Saharan African ancestry alters the levels of glycated haemoglobin in their blood independent of blood sugar. This suggests they will be more likely to be falsely diagnosed with diabetes, she says.
Gurdasani’s discovery is just the latest in a growing list of medical injustices resulting from the fact that the vast majority of people who have had their DNA sequenced are of European descent. Again and again, people from under-represented backgrounds find that drugs and diagnostics based on research that makes connections between DNA and disease don’t work for them. The dearth of diversity in these studies also means that people in overlooked populations are more likely to get inaccurate results from tests that look at an individual’s genetic risk of developing a condition, excluding them from the much-vaunted promise of personalised medicine.
All of which explains why researchers like Gurdasani, a geneticist at Queen Mary, University of London, are sequencing the DNA of thousands of people from under-represented populations around the world. This isn’t just about justice: increasing the diversity of genetic studies could also uncover novel genetic variants associated with disease, providing targets for treatments that …