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More Diversity Needed in Human Genetics Research

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Nearly four out of five people represented in human genetic research are of European decent. That’s the result of a recent analysis that also found that 10 % are of Asian descent, while people of African, Hispanic and all other ethnicities make up less than six percent.

Unfortunately, it’s no surprise that non-European populations are under-represented in biomedical research of many sorts. But these numbers are striking, and the authors say it is a major impediment to understanding how genes cause disease and how such diseases can be treated.

In short, it poses a health risk.

“What was shocking to me was that I thought that in the last several years as the number of studies increased, that it would have gotten a lot better, and the surprise to me was that it wasn’t that much better,” said Sarah Tishkoff, the David and Lyn Silfen Professor in the Department of Genetics and Biology at the University of Pennsylvania. She also serves as a director for the American Society of Human Genetics.

According to Tishkoff, 80% of the number of studies that look at genetic associations with disease are still focused on people of Eurpoean ancestry.

The top reason, she said, is that most of the research is being done in the United States and Europe, where it’s easy to focus on the population around you. Some other reasons could include funding and priorities by funding agencies, and bias.

One problem with this lack of diversity is that it impairs our ability to understand disease.

“We could miss a disease causing gene or gene variant in one population that isn’t being studied accurately,” said Tishkoff.

Another is that risk scores may not translate well to other ethnic groups. They could be wrong or misleading.

“People aren’t going to really know how at risk they are for a disease,” said Tishkoff.

In a field that has a history of neglect, exploitation and mistrust in the field, how can we overcome this?

“One of the most important things is to have genetic researchers and scientists that reflect that diversity. People are going to trust people who look more like them,” said Tishkoff.

There are other ways to increase diversity as well: make sure research is done in an ethical manner, include social sciences, and make sure communities get involved in the research.


Web content created by Liz Lerner. 

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Elsa Partan is a producer and newscaster with CAI. She first came to the station in 2002 as an intern and fell in love with radio. She is a graduate of Bryn Mawr College and the Columbia University Graduate School of Journalism. From 2006 to 2009, she covered the state of Wyoming for the NPR member station Wyoming Public Media in Laramie. She was a newspaper reporter at The Mashpee Enterprise from 2010 to 2013. She lives in Falmouth with her husband and two daughters.