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Not Always an Answer

Genetic tests don't always provide the clear-cut answers patients seek, the Associated Press reports.

It recounts one case in which Katie Burns learned that her unborn child harbor a variant within a gene that, when it malfunctions, leads to heart defects and other issues. But, the variant Burns' fetus had was a variant of unknown significance, it says. Similarly, the AP notes the story of another patient, Kendra Snyder, who took a genetic test to determine whether her heart condition was genetic, but who also received a VUS result.

This, the AP says, "is a glimpse into a surprising paradox of modern-day genetics: Scientists have made huge leaps in rapidly decoding people's DNA, but they sometimes don't know what their findings mean. They can even get fooled."

But it adds that as more and more people are tested, that will build up the knowledgebase and be able to better tease out whether VUS are benign or pathogenic.

Further testing, the AP adds, found that Burns' healthy husband carried the same variant as their child, who was born healthy, and the variant has since been deemed likely benign.

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