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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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Artin et al. (2019) studied this question.
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