genetic testing genetic testing

Kerri De Nies plays with her son, Gregory Mac Phee at their home in San Diego. Gregory tested positive for adrenoleukodystrophy, a rare brain disorder that affects 1 in about 18,000 babies. Roughly 30 percent of boys with the genetic mutation go on to develop the most serious form of the disease. Anna Gorman/KHN hide caption

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Anna Gorman/KHN

Parents Lobby States To Expand Newborn Screening Test For Rare Brain Disorder

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Patients who underwent genetic screenings now fear that documentation of the results in their medical records could lead to problems if a new health law is enacted. Sam Edwards/Caiaimage/Getty Images hide caption

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Sam Edwards/Caiaimage/Getty Images

Whole genome sequencing could become part of routine medical care. Researchers sought to find out how primary care doctors and patients would handle the results. Cultura RM Exclusive/GIPhotoStock/Getty Images/Cultura Exclusive hide caption

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Cultura RM Exclusive/GIPhotoStock/Getty Images/Cultura Exclusive

Routine DNA Sequencing May Be Helpful And Not As Scary As Feared

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Results from different genetic tests on samples from the same cancer patient can disagree about the best course of treatment. Clare McLean/University of Washington School of Medicine hide caption

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Clare McLean/University of Washington School of Medicine
Scott Bakal for NPR

Would You Want To Know The Secrets Hidden In Your Baby's Genes?

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Family medical histories are used to figure out whether it is worthwhile for a woman to be tested for BRCA genetic mutations, which increase the risk of breast and ovarian cancer. Andrew Brookes/Cultura RF/Getty Images hide caption

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Andrew Brookes/Cultura RF/Getty Images

The condition known as hypertrophic cardiomyopathy, or HCM, is inherited and can be a killer. But some of the genetic mutations once thought linked to the illness are actually harmless, geneticists say. Afton Almaraz/Getty Images hide caption

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Afton Almaraz/Getty Images

Study Of Sudden Cardiac Death Exposes Limits Of Genetic Testing

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Milo Lorentzen is 5 years old, and is one of only three people in the world known to have a mutation in a gene called KDM1A. Courtesy of Karen Park hide caption

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Courtesy of Karen Park

When Erika Stallings was 22, she found out that she might have a genetic mutation that greatly increased her risk of cancer. Misha Friedman for NPR hide caption

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Misha Friedman for NPR

More People Seek Genetic Testing, But There Aren't Enough Counselors

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Ultrasound is often used for prenatal screening. It's just one of several prenatal screenings available to pregnant women. iStockphoto hide caption

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iStockphoto

DNA Blood Test Gives Women A New Option For Prenatal Screening

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