Department of Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy.
Division of Pharmacoepidemiology and Pharmacoeconomics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, United Sates of America.
PLoS One. 2019 Aug 5;14(8):e0219755. doi: 10.1371/journal.pone.0219755. eCollection 2019.
The existing frameworks for the evaluation of genetic and genomic applications clearly address the technical and clinical value of a test, but are less concerned with the way genetic services are delivered and organized. We therefore aimed to develop a comprehensive new framework that includes an assessment of service delivery.
A new framework was built on the evaluation dimensions identified through a systematic review of the existing frameworks and a Delphi survey of Italian experts in public health genomics.
Our framework has four sections. The first two sections, respectively, guide the evidence collection process for the genetic test (analytic validity; clinical validity; clinical utility; personal utility) and its delivery models (organizational aspects; economic evaluation; ethical, legal and social implications; patient perspective). The third section guides the formulation of the research priorities to be addressed in future research. Finally, the fourth section suggests three criteria to summarize the collected evidence (net benefit, cost-effectiveness, feasibility).
We have successfully developed an evaluation framework for the evaluation of genetic tests that includes an assessment of service delivery. It also introduces some neglected evaluation dimensions such as personal utility and patient perspective.
现有的遗传和基因组应用评估框架明确解决了测试的技术和临床价值问题，但较少关注遗传服务的提供和组织方式。因此，我们旨在开发一个包括服务交付评估的综合新框架。
通过对现有框架进行系统评价和对意大利公共卫生基因组学专家进行德尔菲调查，确定了评估维度，并在此基础上构建了一个新框架。
我们的框架有四个部分。前两个部分分别指导遗传测试的证据收集过程（分析有效性；临床有效性；临床实用性；个人实用性）及其交付模式（组织方面；经济评估；伦理、法律和社会影响；患者视角）。第三部分指导制定未来研究中需要解决的研究重点。最后，第四个部分提出了三个总结所收集证据的标准（净效益、成本效益、可行性）。
我们成功地开发了一个用于评估遗传测试的评估框架，其中包括对服务交付的评估。它还引入了一些被忽视的评估维度，如个人实用性和患者视角。
