For some pregnant women, prenatal genetic test results in cancer diagnosis

MaterniT21 PLUS was the first noninvasive prenatal test (NIPT) to hit the market, in October 2011, and Sequenom has sold more than 400,000 of them. Five other companies — three in California and two in China — sell similar tests, and demand is rising sharply.

“There’s been about 800,000 women in the past year in the U.S. who have had an NIPT,” Eric Topol, a professor of genomics at the Scripps Research Institute, told BuzzFeed News. That’s a lot — about 20% of the 4 million total babies born each year. “It’s the hottest molecular test ever in the history of medicine.”

As the numbers tick upward, these tests — which only require a blood draw — are turning up rare genetic glitches not only in the DNA of the fetus, but the mother.

At the Future of Genomic Medicine conference in La Jolla, California, scientists from Sequenom said they have seen more than 40 cases in which the test revealed an abnormal genetic profile suggestive of cancer in the mother. At least 26 of these women were subsequently confirmed to have cancer, including Eunice Lee.

Because these popular tests are largely unregulated by the Food and Drug Administration (FDA), the companies are struggling with how to handle these sticky situations. The tests were not designed to detect cancer, and no one knows how often they are wrong when used for this purpose. And yet, withholding this potentially life-saving information from women might also cause harm.

“No company, no doctor, no patient ever expected this,” Topol said. “This is going to happen to many other women going forward.”

It also hints at a not-so-distant future in which people routinely get blood tests for cancer, known among scientists as “liquid biopsies.” At least two of the companies that sell these prenatal tests have announced plans to enter the oncology market.

Read full, original article: Pregnant Women Are Finding Out They Have Cancer From A Genetic Test Of Their Babies

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