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How a surprising discovery turned into a promising new early-detection – Source fastcompany.com

In the fall of 2014, the healthcare company Illumina was conducting a study involving blood tests on about 150,000 pregnant women. The goal was to find DNA fragments in the women’s blood that might indicate chromosomal abnormalities in the fetuses they were carrying—abnormalities that could signal the presence of genetic disorders such as Down syndrome or cystic fibrosis.

A pathologist working on the tests noticed something odd in 10 of the blood samples. They didn’t show evidence of the chromosomal disorders the test was designed to find, but they indicated DNA abnormalities that she couldn’t make sense of. She saved those tests and shared them with Illumina’s chief medical officer at the time, Rick Klausner, a former director of the National Cancer Institute.

“So, I looked at them,” Klausner recalls. “And I said, ‘These women have cancer. I don’t know of anything else that changes the genome the way you’re showing me here.’” The research team followed up…

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Source : fastcompany.com

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