Genome Medical, San Francisco, California.
ThinkGenetic, Inc., Waynesboro, Virginia.
Am J Med Genet C Semin Med Genet. 2018 Mar;178(1):15-23. doi: 10.1002/ajmg.c.31599. Epub 2018 Mar 7.
Smartphones, artificial intelligence, automation, digital communication, and other types of technology are playing an increasingly important role in our daily lives. It is no surprise that technology is also shaping the practice of medicine, and more specifically the practice of genetic counseling. While digital tools have been part of the practice of medical genetics for decades, such as internet- or CD-ROM-based tools like Online Mendelian Inheritance in Man and Pictures of Standard Syndromes and Undiagnosed Malformations in the 1980s, the potential for emerging tools to change how we practice and the way patients consume information is startling. Technology has the potential to aid in at-risk patient identification, assist in generating a differential diagnosis, improve efficiency in medical history collection and risk assessment, provide educational support for patients, and streamline follow-up. Here we review the historic and current uses of technology in genetic counseling, identify challenges to integration, and propose future applications of technology that can shape the practice of genetic counseling.
智能手机、人工智能、自动化、数字通信和其他类型的技术在我们的日常生活中扮演着越来越重要的角色。毫不奇怪，技术也在塑造医学实践，更具体地说，是遗传咨询的实践。虽然数字工具已经成为医学遗传学实践的一部分已有几十年了，例如 20 世纪 80 年代基于互联网或 CD-ROM 的工具，如在线孟德尔遗传和标准综合征图片和未诊断畸形，但新兴工具改变我们实践方式和患者获取信息方式的潜力令人震惊。技术有可能帮助识别高危患者，辅助生成鉴别诊断，提高病史收集和风险评估的效率，为患者提供教育支持，并简化随访。在这里，我们回顾了技术在遗传咨询中的历史和当前用途，确定了整合的挑战，并提出了可以塑造遗传咨询实践的未来技术应用。
