Beth Israel Deaconess Medical Center, Boston, Massachusetts (G.W.S., H.L.).
Harvard Medical School at Veterans Affairs Boston Healthcare System, Boston, Massachusetts (J.L.V.).
Ann Intern Med. 2020 Oct 6;173(7):563-571. doi: 10.7326/M20-5419.
In recent years, the number of patients choosing to have direct-to-consumer (DTC) genetic testing without involving their clinicians has increased substantially. For example, the number of subscribers to a commonly used testing site has grown to more than 10 million. These services have been heavily marketed in the United States and often include information about ancestry; genetic traits; and, increasingly, disease risk. In clinical care, genetic testing by a physician is accompanied by both pre- and posttest counseling by a trained genetic counselor. However, there are not enough genetic counselors to meet the needs of all persons contemplating DTC genetic testing. Formal genetic counseling includes preparation of a family pedigree; a discussion about potential benefits, the possibility that some information might be stressful to receive or difficult to understand, and the potential for disclosure of genetic information; and a detailed informed consent process. Some DTC tests for genetic susceptibilities look for only a few known mutations in a particular gene (such as ); a negative test result does not exclude the possibility of a clinically important mutation. A positive DTC genetic test result that might change clinical management should be followed by a confirmatory test through a genetics laboratory. Here, 2 expert physicians-a general internist and a medical oncologist with genetics experience-discuss an approach to counseling a patient who is considering DTC testing to learn more about his ancestry and his risk for metabolic syndrome.
近年来，越来越多的患者选择直接面向消费者（DTC）的基因检测，而不与他们的临床医生合作。例如，一个常用的检测网站的订阅者数量已经增长到超过 1000 万。这些服务在美国已经被大力推广，并且通常包括关于种族、遗传特征的信息，以及越来越多的疾病风险信息。在临床护理中，医生进行基因检测的同时，会有经过培训的遗传咨询师进行检测前和检测后的咨询。然而，遗传咨询师的数量不足以满足所有考虑进行 DTC 基因检测的人的需求。正式的遗传咨询包括准备家族病史；讨论潜在的益处、某些信息可能会带来压力或难以理解的可能性，以及遗传信息披露的可能性；以及详细的知情同意过程。一些用于检测遗传易感性的 DTC 测试只寻找特定基因中的少数几个已知突变（例如）；阴性测试结果并不能排除临床重要突变的可能性。阳性的 DTC 基因检测结果可能会改变临床管理，应该通过遗传实验室进行确认测试。在这里，两位专家医生——一位普通内科医生和一位有遗传学经验的肿瘤内科医生——讨论了一种咨询方法，帮助考虑进行 DTC 检测以了解更多关于其种族和代谢综合征风险的患者。
