Columbia University, New York, New York (M.G.A., D.S., K.K., W.K.C.).
Ann Intern Med. 2019 May 7;170(9):643-650. doi: 10.7326/M18-2356. Epub 2019 Apr 30.
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.
一对夫妇正计划要孩子，他们在阅读了 23andMe 公司的携带者筛查测试和新的 BRCA1/BRCA2 测试后，决定订购 23andMe 测试。他们带着结果去找内科医生，寻求有关下一步该怎么做的建议。随着公众对人类遗传学和精准医学的兴趣日益增加，直接面向消费者的基因检测越来越受欢迎，临床医生应该预计患者会更频繁地展示这些测试的结果。本文使用案例场景提供了有关这些测试结果意味着什么以及它们不意味着什么的信息。
