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.

Keep Reading Keep Reading
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.
New implants let paraplegics surf the web and play computer games

Rodney Gorham, an Australian living with ALS, has reconnected with the world, thanks to a brain-machine interface called the Stentrode.

Rodeny Dekker

When I greeted Rodney Gorham, age 63, in an online chat session, he replied within seconds: “My pleasure.”

“Are you moving parts of your body as you type?” I asked.

This time, his response came about five minutes later: “I position the cursor with the eye tracking and select the same with moving my ankles.” Gorham, a former sales representative from Melbourne, Australia, living with amyotrophic lateral sclerosis, or ALS, a rare form of Lou Gehrig’s disease that impairs the brain’s nerve cells and the spinal cord, limiting the ability to move. ALS essentially “locks” a person inside their own body. Gorham is conversing with me by typing with his mind only–no fingers in between his brain and his computer.

Keep Reading Keep Reading
Stav Dimitropoulos
Stav Dimitropoulos's features have appeared in major outlets such as the BBC, National Geographic, Scientific American, Nature, Popular Mechanics, Science, Runner’s World, and more. Follow her on Facebook or Twitter @TheyCallMeStav.
Leading XPRIZE Healthspan and Beating Negativity with Dr. Peter Diamandis

XPRIZE founder and chairman Peter Diamandis launches XPRIZE Healthspan at an event on November 29.

Hevolution Foundation

A new competition by the XPRIZE Foundation is offering $101 million to researchers who discover therapies that give a boost to people aged 65-80 so their bodies perform more like when they were middle-aged.

For today’s podcast episode, I talked with Dr. Peter Diamandis, XPRIZE’s founder and executive chairman. Under Peter’s leadership, XPRIZE has launched 27 previous competitions with over $300 million in prize purses. The latest contest aims to enhance healthspan, or the period of life when older people can play with their grandkids without any restriction, disability or disease. Such breakthroughs could help prevent chronic diseases that are closely linked to aging. These illnesses are costly to manage and threaten to overwhelm the healthcare system, as the number of Americans over age 65 is rising fast.

Keep Reading Keep Reading
Matt Fuchs
Matt Fuchs is the host of the Making Sense of Science podcast and served previously as the editor-in-chief of Leaps.org. He writes as a contributor to the Washington Post, and his articles have also appeared in the New York Times, WIRED, Nautilus Magazine, Fortune Magazine and TIME Magazine. Follow him @fuchswriter.