Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results
A couple is planning to start a family, and they decide to order a 23andMe test after reading about the company's carrier screening test and the new BRCA1/BRCA2 test. They bring the results to their internist for advice on how to proceed. Given the rise in public interest in human genetics and precision medicine, direct-to-consumer genetic testing is becoming increasingly popular, and clinicians should expect patients to present the results of these tests more frequently. This article uses a case scenario to provide information about what the results of these tests mean, and what they do not mean.
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Many articles published in the Annals of Internal Medicine (annals.org) offer CME credit and MOC points, earned by reading the articles and subsequently completing a multiple-choice quiz to demonstrate knowledge. Note that CME and MOC availability typically expires 3 years after article publication, but quizzes remain available to allow learners to test their knowledge.