Office of the Chief Scientific Officer, Geisinger, MC 30-42, 100 North Academy Avenue, Danville, PA 17822, USA.
Center for Newborn Screening, Ethics, and Disability Studies, RTI International, 3040 East Institute Drive, Research Triangle Park, NC 27709, USA.
Med Clin North Am. 2019 Nov;103(6):967-976. doi: 10.1016/j.mcna.2019.07.001. Epub 2019 Aug 20.
Historically, both pretest and posttest genetic counseling has been standard of care for genetic testing. This model should be adapted for primary care providers (PCPs) willing to learn critical information about the test and key concepts that patients need to make an informed testing decision. It is helpful for PCPs to discuss a few initial patients with a genetic counselor to prepare for the key concepts of pretest and posttest counseling. This article provides guidance about the recommended level of involvement of PCPs based on the test indication, test complexity, disorder management, and the potential for psychosocial sequela.
从历史上看，检测前和检测后遗传咨询一直是遗传检测的标准护理。这种模式应该适用于愿意学习有关测试的关键信息和患者做出知情测试决策所需的关键概念的初级保健提供者（PCP）。对于 PCP 来说，与遗传咨询师讨论几个初始患者以准备检测前和检测后咨询的关键概念是有帮助的。本文根据测试指征、测试复杂性、疾病管理以及潜在的心理社会后果，提供了关于 PCP 参与程度的建议指南。
