genetics

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

Health Feature Story
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.

Photo by Patrycja Chociej on Unsplash

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.
infectious disease

A new injection is helping stave off RSV this season

Feature Story Health
A new injection is helping stave off RSV this season

The FDA approved a single-dose, long-acting injection to protect babies and toddlers from RSV over the fall and winter.

Adobe Stock

In November 2021, Mickayla Wininger’s then one-month-old son, Malcolm, endured a terrifying bout with RSV, the respiratory syncytial (sin-SISH-uhl) virus—a common ailment that affects all age groups. Most people recover from mild, cold-like symptoms in a week or two, but RSV can be life-threatening in others, particularly infants.

Wininger, who lives in southern Illinois, was dressing Malcolm for bed when she noticed what seemed to be a minor irregularity with this breathing. She and her fiancé, Gavin McCullough, planned to take him to the hospital the next day. The matter became urgent when, in the morning, the boy’s breathing appeared to have stopped.

Keep Reading Keep Reading
Susan Kreimer
Susan Kreimer is a New York-based freelance journalist who has followed the landscape of health care since the late 1990s, initially as a staff reporter for major daily newspapers. She writes about breakthrough studies, personal health, and the business of clinical practice. Raised in the Chicago area, she holds a B.A. in Journalism/Mass Communication and French, with minors in German and Russian, from the University of Iowa and an M.S. from the Columbia University Graduate School of Journalism.
tech

How AI helped make mRNA vaccines

Health In The Lab
How AI helped make mRNA vaccines

AI was integral to creating Moderna's mRNA vaccine against COVID.

Adobe Stock

Story by Big Think

For most of history, artificial intelligence (AI) has been relegated almost entirely to the realm of science fiction. Then, in late 2022, it burst into reality — seemingly out of nowhere — with the popular launch of ChatGPT, the generative AI chatbot that solves tricky problems, designs rockets, has deep conversations with users, and even aces the Bar exam.

Keep Reading Keep Reading
Ross Pomeroy
Steven Ross Pomeroy is the editor of RealClearScience. As a writer, Ross believes that his greatest assets are his insatiable curiosity and his ceaseless love for learning. Follow him on Twitter