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December 30, 2019

Be Ready to Talk With Parents About Direct-to-Consumer Genetic Testing

Author Affiliations
  • 1Center for Biomedical Ethics and Society, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee
JAMA Pediatr. 2020;174(2):117-118. doi:10.1001/jamapediatrics.2019.5006

Perhaps this has already happened to you. You are seeing a school-aged girl for general health maintenance, and her parents say, “We had our child tested by 23andMe and found that she is at risk for developing HFE-related hemochromatosis. What should we do?” Fortunately, in women, this disorder rarely becomes symptomatic or requires medical intervention before menopause, so you can reassure them. You may suggest that they talk with their physicians about their own risk. You may also wonder idly whether the child will be assessed for hemochromatosis in mid to late adulthood when detection would more appropriate, but you decide that medical science will be even better then.

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