Invitae, San Francisco, California, USA.
Am J Med Genet C Semin Med Genet. 2021 Mar;187(1):14-27. doi: 10.1002/ajmg.c.31866. Epub 2020 Dec 9.
Genetic testing can provide definitive molecular diagnoses and guide clinical management decisions from preconception through adulthood. Innovative solutions for scaling clinical genomics services are necessary if they are to transition from a niche specialty to a routine part of patient care. The expertise of specialists, like genetic counselors and medical geneticists, has traditionally been relied upon to facilitate testing and follow-up, and while ideal, this approach is limited in its ability to integrate genetics into primary care. As individuals, payors, and providers increasingly realize the value of genetics in mainstream medicine, several implementation challenges need to be overcome. These include electronic health record integration, patient and provider education, tools to stay abreast of guidelines, and simplification of the test ordering process. Currently, no single platform offers a holistic view of genetic testing that streamlines the entire process across specialties that begins with identifying at-risk patients in mainstream care settings, providing pretest education, facilitating consent and test ordering, and following up as a "genetic companion" for ongoing management. We describe our vision for using software that includes clinical-grade chatbots and decision support tools, with direct access to genetic counselors and pharmacists within a modular, integrated, end-to-end testing journey.
遗传检测可提供明确的分子诊断，并为从受孕前到成年期的临床管理决策提供指导。如果要将临床基因组学服务从一个利基专业转变为患者护理的常规部分，就需要创新的解决方案来扩展这些服务。遗传咨询师和医学遗传学家等专家的专业知识一直以来都被用于促进检测和随访，虽然这种方法很理想，但它在将遗传学纳入初级保健方面的能力有限。随着个人、支付方和提供者越来越认识到遗传学在主流医学中的价值，需要克服几个实施方面的挑战。这些挑战包括电子健康记录的整合、患者和提供者的教育、了解指南的工具以及简化检测订购流程。目前，没有任何单一平台可以提供遗传检测的整体视图，无法简化整个流程，而整个流程始于在主流护理环境中识别高危患者，提供检测前教育，促进同意和检测订购，并作为“遗传伴侣”为持续管理提供帮助。我们描述了我们使用软件的愿景，该软件包括临床级别的聊天机器人和决策支持工具，并可直接访问遗传咨询师和药剂师，以实现模块化、集成的端到端检测流程。
