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What started as a summer science project soon turned into a family medical crisis for geneticist Heidi Rehm. In July, she ordered a test to sequence her 14-year-old daughter’s DNA, hoping to find a genetic explanation for why one of the girl’s adult teeth hadn’t emerged. Instead, mother and daughter found that they both carried a genetic mutation linked to dilated cardiomyopathy — a heart-muscle abnormality that can lead to sudden death, especially in adults.

After consulting a cardiologist and investigating her family’s mutation — which had been seen only in people with diagnosed cardiomyopathy — Rehm found that it might not be as lethal as it had first seemed. Her story shows how far genetic sequencing still has to go before it becomes a routine part of medical care. Although scientists are using sequencing to save sick people’s lives, many still question whether it helps those without a diagnosis.

Because most genes linked to disease were discovered in ill people and their families, geneticists don’t have an accurate understanding of how mutations behave in people who are not obviously sick. “This is a fascinating flashpoint in the field right now,” says Robert Green, a geneticist at Brigham and Women’s Hospital in Boston, Massachusetts. “Many people are deeply concerned that widespread screening of ostensibly healthy people could actually lead to harm.”

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Image: By derivative work: Tryphon (talk)Chromosome-upright.png: Original version: Magnus Manske, this version with upright chromosome: User:Dietzel65 – This is a retouched picture, which means that it has been digitally altered from its original version. Modifications: Made a SVG file inspired by this picture.. The original can be viewed here: Chromosome-upright.png. Modifications made by Tryphon.This vector image was created with Inkscape., CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=5285797

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