Genetic Testing Companies Are Facing a Racial Bias Problem in Disease Risk Tests

Genetic Testing Companies Are Facing a Racial Bias Problem in Disease Risk Tests

The large genetic studies underlying certain disease risk tests have primarily been done in populations of European ancestry, limiting their accuracy.

Earlier this year, California-based Ambry Genetics announced that it was discontinuing a test meant to estimate a person's risk of developing prostate or breast cancer. The test looks for variations in a person's DNA that are known to be associated with these cancers.

Known as a polygenic risk score, this type of test adds up the effects of variants in many genes — often in the dozens or hundreds — and calculates a person's risk of developing a particular health condition compared to other people. In this way, polygenic risk scores are different from traditional genetic tests that look for mutations in single genes, such as BRCA1 and BRCA2, which raise the risk of breast cancer.

Traditional genetic tests look for mutations that are relatively rare in the general population but have a large impact on a person's disease risk, like BRCA1 and BRCA2. By contrast, polygenic risk scores scan for more common genetic variants that, on their own, have a small effect on risk. Added together, however, they can raise a person's risk for developing disease.

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Emily Mullin
Emily Mullin is a science and biotech journalist whose work has appeared in The Washington Post, New York Times, Wall Street Journal, Scientific American, National Geographic and Smithsonian Magazine.
Send in the Robots: A Look into the Future of Firefighting

Drones are just one of several new technologies that are rising to the challenge of more frequent wildfires.

Courtesy of USDA Forest Service

April in Paris stood still. Flames engulfed the beloved Notre Dame Cathedral as the world watched, horrified, in 2019. The worst looked inevitable when firefighters were forced to retreat from the out-of-control fire.

But the Paris Fire Brigade had an ace up their sleeve: Colossus, a firefighting robot. The seemingly indestructible tank-like machine ripped through the blaze with its motorized water cannon. It was able to put out flames in places that would have been deadly for firefighters.

Firefighting is entering a new era, driven by necessity. Conventional methods of managing fires have been no match for the fiercer, more expansive fires being triggered by climate change, urban sprawl, and susceptible wooded areas.

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Eve Glicksman
Eve Glicksman is a freelance writer and editor in Silver Spring, MD. She writes for multiple media outlets and associations on health care, trends, culture, psychology, lifestyle, and travel. To see her work in the Washington Post, WebMD, and U.S. News & World Report, visit eveglicksman.com.
New device can diagnose concussions using AI

A new test called the EyeBox could provide a more objective - and portable - tool to measure whether people have concussions in stadiums and hospitals.

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For a long time after Mary Smith hit her head, she was not able to function. Test after test came back normal, so her doctors ruled out the concussion, but she knew something was wrong. Finally, when she took a test with a novel EyeBOX device, recently approved by the FDA, she learned she indeed had been dealing with the aftermath of a concussion.

“I felt like even my husband and doctors thought I was faking it or crazy,” recalls Smith, who preferred not to disclose her real name. “When I took the EyeBOX test it showed that my eyes were not moving together and my BOX score was abnormal.” To her diagnosticians, scientists at the Minneapolis-based company Oculogica who developed the EyeBOX, these markers were concussion signs. “I cried knowing that finally someone could figure out what was wrong with me and help me get better,” she says.

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Sarah Philip
Sarah Philip is a London-based freelance journalist who writes about science, film and TV. You can follow her on Twitter @sarahph1lip.