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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.
Meet Dr. Renee Wegrzyn, the first Director of President Biden's new health agency, ARPA-H

Today's podcast guest, Dr. Renee Wegrzyn, directs ARPA-H, a new agency formed last year to spearhead innovations in the realm of health. Time will tell if ARPA-H can produce achievements similar to DARPA, the agency on which it's based.

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In today’s podcast episode, I talk with Renee Wegrzyn, appointed by President Biden as the first director of a federal agency created last year called the Advanced Research Projects Agency for Health, or ARPA-H. It’s inspired by DARPA, the agency that develops innovations for the Defense department and has been credited with hatching world changing technologies such as ARPANET, which became the internet.

Time will tell if ARPA-H will lead to similar achievements in the realm of health. That’s what President Biden and Congress expect in return for funding ARPA-H at 2.5 billion dollars over three years.

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Matt Fuchs

Matt Fuchs is the editor-in-chief of Leaps.org and Making Sense of Science. He is also a contributing reporter to the Washington Post and has written for the New York Times, Time Magazine, WIRED and the Washington Post Magazine, among other outlets. Follow him @fuchswriter.

Tiny, tough “water bears” may help bring new vaccines and medicines to sub-Saharan Africa

Tardigrades can completely dehydrate and later rehydrate themselves, a survival trick that scientists are harnessing to preserve medicines in hot temperatures.

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Microscopic tardigrades, widely considered to be some of the toughest animals on earth, can survive for decades without oxygen or water and are thought to have lived through a crash-landing on the moon. Also known as water bears, they survive by fully dehydrating and later rehydrating themselves – a feat only a few animals can accomplish. Now scientists are harnessing tardigrades’ talents to make medicines that can be dried and stored at ambient temperatures and later rehydrated for use—instead of being kept refrigerated or frozen.

Many biologics—pharmaceutical products made by using living cells or synthesized from biological sources—require refrigeration, which isn’t always available in many remote locales or places with unreliable electricity. These products include mRNA and other vaccines, monoclonal antibodies and immuno-therapies for cancer, rheumatoid arthritis and other conditions. Cooling is also needed for medicines for blood clotting disorders like hemophilia and for trauma patients.

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Gail Dutton
Gail Dutton has covered the biopharmaceutical industry as a journalist for the past three decades. She focuses on the intersection of business and science, and has written extensively for GEN – Genetic Engineering & Biotechnology News, Life Science Leader, The Scientist and BioSpace. Her articles also have appeared in Popular Science, Forbes, Entrepreneur and other publications.