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.

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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.
tech

A startup aims to make medicines in space

Health Environment & Space
A startup aims to make medicines in space

A company is looking to improve medicines by making them in the nearly weightless environment of space.

Adobe Stock

Story by Big Think

On June 12, a SpaceX Falcon 9 rocket deployed 72 small satellites for customers — including the world’s first space factory.

The challenge: In 2019, pharma giant Merck revealed that an experiment on the International Space Station had shown how to make its blockbuster cancer drug Keytruda more stable. That meant it could now be administered via a shot rather than through an IV infusion.

The key to the discovery was the fact that particles behave differently when freed from the force of gravity — seeing how its drug crystalized in microgravity helped Merck figure out how to tweak its manufacturing process on Earth to produce the more stable version.

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Kristin Houser
Kristin Houser is a staff writer at Freethink, where she covers science and tech. Her written work has appeared in Business Insider, NBC News, and the World Economic Forum’s Agenda, among other publications, and Stephen Colbert once talked about a piece on The Late Show, to her delight. Formerly, Kristin was a staff writer for Futurism and wrote several animated and live action web series.
genetics

Genes that protect health with Dr. Nir Barzilai

Podcast In The Lab
Genes that protect health with Dr. Nir Barzilai

Centenarians essentially won the genetic lottery, says Nir Barzilai of Albert Einstein College of Medicine. He is studying their genes to see how the rest of us can benefit from understanding how they work.

In today’s podcast episode, I talk with Nir Barzilai, a geroscientist, which means he studies the biology of aging. Barzilai directs the Institute for Aging Research at the Albert Einstein College of Medicine.

My first question for Dr. Barzilai was: why do we age? And is there anything to be done about it? His answers were encouraging. We can’t live forever, but we have some control over the process, as he argues in his book, Age Later.

Dr. Barzilai told me that centenarians differ from the rest of us because they have unique gene mutations that help them stay healthy longer. For most of us, the words “gene mutations” spell trouble - we associate these words with cancer or neurodegenerative diseases, but apparently not all mutations are bad.

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Lina Zeldovich

Lina Zeldovich has written about science, medicine and technology for Popular Science, Smithsonian, National Geographic, Scientific American, Reader’s Digest, the New York Times and other major national and international publications. A Columbia J-School alumna, she has won several awards for her stories, including the ASJA Crisis Coverage Award for Covid reporting, and has been a contributing editor at Nautilus Magazine. In 2021, Zeldovich released her first book, The Other Dark Matter, published by the University of Chicago Press, about the science and business of turning waste into wealth and health. You can find her on http://linazeldovich.com/ and @linazeldovich.