Interview of Carlos D. Bustamante by David Rotman: “In the 15 years since the Human Genome Project first exposed our DNA blueprint, vast amounts of genetic data have been collected from millions of people in many different parts of the world. Carlos D. Bustamante’s job is to search that genetic data for clues to everything from ancient history and human migration patterns to the reasons people with different ancestries are so varied in their response to common diseases.
Bustamante’s career has roughly spanned the period since the Human Genome Project was completed. A professor of genetics and biomedical data science at Stanford and 2010 winner of a MacArthur genius award, he has helped to tease out the complex genetic variation across different populations. These variants mean that the causes of diseases can vary greatly between groups. Part of the motivation for Bustamante, who was born in Venezuela and moved to the US when he was seven, is to use those insights to lessen the medical disparities that still plague us.
But while it’s an area ripe with potential for improving medicine, it’s also fraught with controversies over how to interpret genetic differences between human populations. In an era still obsessed with race and ethnicity—and marred by the frequent misuse of science in defining the characteristics of different groups—Bustamante remains undaunted in searching for the nuanced genetic differences that these groups display.
Perhaps his optimism is due to his personality—few sentences go by without a “fantastic” or “extraordinarily exciting.” But it is also his recognition as a population geneticist of the incredible opportunity that understanding differences in human genomes presents for improving health and fighting disease.
David Rotman, MIT Technology Review’s editor at large, discussed with Bustamante why it’s so important to include more people in genetic studies and understand the genetics of different populations.
How good are we at making sure that the genomic data we’re collecting is inclusive?
I’m optimistic, but it’s not there yet.
In our 2011 paper, the statistic we had was that more than 96% of participants in genome-wide association studies were of European descent. In the follow-up in 2016, the number went from 96% to around 80%. So that’s getting better. Unfortunately, or perhaps fortunately, a lot of that is due to the entry of China into genetics. A lot of that was due to large-scale studies in Chinese and East Asian populations. Hispanics, for example, make up less than 1% of genome-wide association studies. So we need to do better. Ultimately, we want precision medicine to benefit everybody.
Aside from a fairness issue, why is diversity in genomic data important? What do we miss without it?
First of all, it has nothing to do with political correctness. It has everything to do with human biology and the fact that human populations and the great diaspora of human migrations have left their mark on the human genome. The genetic underpinnings of health and disease have shared components across human populations and things that are unique to different populations….(More)”.