All of Us: Fighting Unfairness in Genetic Medicine
Source: Scientific American
When the race to sequence the first human genome was rushing toward the finish line about 20 years ago, I remember feeling mesmerized by what was about to happen. It was the dawn of a new century, and it seemed we were on the cusp of unlocking the meaning behind the blueprint of life, DNA. Once we could line up all 3.1 billion base pairs of the molecule in our genome, I thought—I was an undergraduate student at the time, dazzled by science—we would understand everything there is to know about human health and disease.
What I didn’t know was that those first decades of genetic medicine would leave a lot of people behind. So I was taken aback several years later, in 2009, just after I got my doctorate in molecular genetics, when researchers at Duke University reported that 96 percent of the genomic data we had gathered came from people of European ancestry. This was not the result of small numbers: they calculated the percentage using the more than 1.7 million individual genome samples analyzed at the time, but the samples were lacking diversity. Over the next few years things did not get much better, and as recently as four years ago genomic databases were still way out of balance, with more representation of Europeans and less of everyone else. This inequity, if it is not fixed, will turn into tremendous health inequality.