Walton Nephi A, Christensen G Bryce
Intermountain Precision Genomics, Intermountain Healthcare, Salt Lake City, UT, United States.
Front Sociol. 2023 May 19;8:1122488. doi: 10.3389/fsoc.2023.1122488. eCollection 2023.
Having worked with two large population sequencing initiatives, the separation between the potential for genomics in precision medicine and the current reality have become clear. To realize this potential requires workflows, policies, and technical architectures that are foreign to most healthcare systems. Many historical processes and regulatory barriers currently impede our progress. The future of precision medicine includes genomic data being widely available at the point of care with systems in place to manage its efficient utilization. To achieve such vision requires substantial changes in billing, reimbursement, and reporting as well as the development of new systemic and technical architectures within the healthcare system. Clinical geneticist roles will evolve into managing precision health frameworks and genetic counselors will serve crucial roles in both leading and supporting precision medicine through the implementation and maintenance of precision medicine architectures. Our current path has many obstacles that hold us back, leaving preventable deaths in the wake. Reengineering our healthcare systems to support genomics can have a major impact on patient outcomes and allow us to realize the long-sought promises of precision medicine.
在参与了两项大型人群测序计划后，精准医学中基因组学的潜力与当前现实之间的差距已变得清晰。要实现这一潜力，需要大多数医疗系统所不熟悉的工作流程、政策和技术架构。许多历史遗留的流程和监管障碍目前阻碍着我们的进展。精准医学的未来包括在医疗点广泛提供基因组数据，并建立相应系统来管理其有效利用。要实现这一愿景，需要在计费、报销和报告方面进行重大变革，并在医疗系统内开发新的系统和技术架构。临床遗传学家的角色将演变为管理精准健康框架，而遗传咨询师将通过实施和维护精准医学架构，在引领和支持精准医学方面发挥关键作用。我们目前的道路存在许多阻碍我们前进的障碍，导致了可预防的死亡。重新设计我们的医疗系统以支持基因组学，可能会对患者的治疗结果产生重大影响，并使我们能够实现长期以来精准医学所承诺的目标。
