Handra Julia, Elbert Adrienne, Gazzaz Nour, Moller-Hansen Ashley, Hyunh Stephanie, Lee Hyun Kyung, Boerkoel Pierre, Alderman Emily, Anderson Erin, Clarke Lorne, Hamilton Sara, Hamman Ronnalea, Hughes Shevaun, Ip Simon, Langlois Sylvie, Lee Mary, Li Laura, Mackenzie Frannie, Patel Millan S, Prentice Leah M, Sangha Karan, Sato Laura, Seath Kimberly, Seppelt Margaret, Swenerton Anne, Warnock Lynn, Zambonin Jessica L, Boerkoel Cornelius F, Chin Hui-Lin, Armstrong Linlea
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Provincial Medical Genetics Program, British Columbia Women's Hospital and Health Centre, Vancouver, BC, Canada.
Front Med (Lausanne). 2023 Jan 12;9:1071348. doi: 10.3389/fmed.2022.1071348. eCollection 2022.
Genomic medicine, an emerging medical discipline, applies the principles of evolution, developmental biology, functional genomics, and structural genomics within clinical care. Enabling widespread adoption and integration of genomic medicine into clinical practice is key to achieving precision medicine. We delineate a biological framework defining diagnostic utility of genomic testing and map the process of genomic medicine to inform integration into clinical practice. This process leverages collaboration and collective cognition of patients, principal care providers, clinical genomic specialists, laboratory geneticists, and payers. We detail considerations for referral, triage, patient intake, phenotyping, testing eligibility, variant analysis and interpretation, counseling, and management within the utilitarian limitations of health care systems. To reduce barriers for clinician engagement in genomic medicine, we provide several decision-making frameworks and tools and describe the implementation of the proposed workflow in a prototyped electronic platform that facilitates genomic care. Finally, we discuss a vision for the future of genomic medicine and comment on areas for continued efforts.
基因组医学是一门新兴的医学学科，它在临床护理中应用进化、发育生物学、功能基因组学和结构基因组学的原理。使基因组医学广泛应用并融入临床实践是实现精准医学的关键。我们勾勒出一个定义基因组检测诊断效用的生物学框架，并绘制基因组医学的流程以指导其融入临床实践。这个过程利用了患者、初级护理提供者、临床基因组专家、实验室遗传学家和支付方的协作与集体认知。我们详细阐述了在医疗保健系统功利性限制内转诊、分诊、患者接待、表型分析、检测资格、变异分析与解读、咨询和管理等方面的注意事项。为减少临床医生参与基因组医学的障碍，我们提供了几个决策框架和工具，并描述了在一个促进基因组护理的原型电子平台中所提议工作流程的实施情况。最后，我们讨论了基因组医学的未来愿景，并对持续努力的领域发表了评论。
