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.

中文翻译：

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基因组学民主化：利用软件使遗传学成为常规护理不可或缺的一部分

基因检测可以提供明确的分子诊断并指导从孕前到成年的临床管理决策。如果要将临床基因组学服务从利基专业过渡到患者护理的常规部分，则需要创新的解决方案来扩展临床基因组学服务。传统上依赖遗传咨询师和医学遗传学家等专家的专业知识来促进检测和随访，虽然这种方法是理想的，但其将遗传学融入初级保健的能力有限。随着个人、支付者和提供者越来越意识到遗传学在主流医学中的价值，需要克服几个实施挑战。这些包括电子健康记录集成、患者和提供者教育、跟上指导方针的工具、并简化测试订购流程。目前，没有一个平台可以提供基因检测的整体视图来简化跨专业的整个过程，从识别主流护理环境中的高危患者开始，提供测试前教育，促进同意和测试订购，并作为“基因伴侣”进行跟进。 ”用于持续管理。我们描述了我们使用包括临床级聊天机器人和决策支持工具在内的软件的愿景，并在模块化、集成、端到端的测试过程中直接访问遗传咨询师和药剂师。促进同意和测试订购，并作为持续管理的“遗传伴侣”进行跟进。我们描述了我们使用包括临床级聊天机器人和决策支持工具在内的软件的愿景，并在模块化、集成、端到端的测试过程中直接访问遗传咨询师和药剂师。促进同意和测试订购，并作为持续管理的“遗传伴侣”进行跟进。我们描述了我们使用包括临床级聊天机器人和决策支持工具在内的软件的愿景，并在模块化、集成、端到端的测试过程中直接访问遗传咨询师和药剂师。