DataSheet1_Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel.DOCX

To realize the promise of genomic medicine, harness the power of genomic technologies, and capitalize on the extraordinary pace of research linking genomic variation to disease risks, healthcare systems must embrace and integrate genomics into routine healthcare. We have implemented an innovative pilot program for genomic population health screening for any-health-status adults within the largest health system in Vermont, United States. This program draws on key research and technological advances to safely extract clinical value for genomics in routine health care. The program offers no-cost, non-research DNA sequencing to patients by their primary care providers as a preventive health tool. We partnered with a commercial clinical testing company for two next generation sequencing gene panels comprising 431 genes related to both high and low-penetrance common health risks and carrier status for recessive disorders. Only pathogenic or likely pathogenic variants are reported. Routine written clinical consultation is provided with a concise, clinical “action plan” that presents core messages for primary care provider and patient use and supports clinical management and health education beyond the testing laboratory’s reports. Access to genetic counseling is free in most cases. Predefined care pathways and access to genetics experts facilitates the appropriate use of results. This pilot tests the feasibility of routine, ethical, and scalable use of population genomic screening in healthcare despite generally imperfect genomic competency among both the public and health care providers. This article describes the program design, implementation process, guiding philosophies, and insights from 2 years of experience offering testing and returning results in primary care settings. To aid others planning similar programs, we review our barriers, solutions, and perceived gaps in the context of an implementation research framework.

为实现基因组医学的承诺，充分运用基因组技术之力，并利用基因组变异与疾病风险关联研究之迅猛进展，医疗体系亟需拥抱并融入基因组学于日常医疗服务之中。本团队已在佛蒙特州最大的医疗系统中实施了一项创新的试点项目，旨在对任何健康状况的成年人群进行基因组人群健康筛查。该项目依托关键的研究和技术进步，安全有效地从常规医疗服务中提取基因组学的临床价值。项目为患者提供由其初级保健提供者进行的免费、非研究性DNA测序，作为预防性健康工具。我们与一家商业临床检测公司合作，采用了包含431个基因的下一代测序基因检测面板，这些基因与高、低患病风险的常见健康风险以及隐性疾病的携带者状态相关。仅报告致病或可能致病的变异。此外，提供简洁的临床“行动计划”，以供初级保健提供者和患者参考，并支持临床管理和健康教育，超越测试实验室的报告。在大多数情况下，遗传咨询服务免费提供。预设的护理途径和对遗传学专家的访问，促进了结果使用的适当性。本试点项目检验了在日常医疗保健中常规、伦理和可扩展地使用人群基因组筛查的可行性，尽管公众和医疗保健提供者普遍存在基因组能力不足的问题。本文阐述了项目设计、实施流程、指导理念以及两年在初级保健环境中提供测试和反馈结果的实践经验。为了帮助他人规划类似项目，我们回顾了实施研究框架下的障碍、解决方案以及感知到的差距。