Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Berman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.
Patient. 2022 May;15(3):317-328. doi: 10.1007/s40271-021-00558-4. Epub 2021 Oct 18.
Successful clinical integration of genomic sequencing (GS) requires evidence of its utility. While GS potentially has benefits (utilities) or harms (disutilities) across multiple domains of life for both patients and their families, there is as yet no empirically informed conceptual model of these effects. Our objective was to develop an empirically informed conceptual model of perceived utility of GS that captures utilities and disutilities for patients and their families across diverse backgrounds.
We took a patient-centered approach, in which we began with a review of existing literature followed by collection of primary interview data. We conducted semi-structured interviews to explore types of utility in a clinically and sociopolitically diverse sample of 60 adults from seven Clinical Sequencing Evidence-Generating Research (CSER) consortium projects. Interviewees had either personally received, or were parents of a child who had received, GS results. Qualitative data were analyzed using thematic analysis. Findings from interviews were integrated with existing literature on clinical and personal utility to form the basis of an initial conceptual model that was refined based on expert review and feedback.
Five key utility types that have been previously identified in qualitative literature held up as primary domains of utility and disutility in our diverse sample. Interview data were used to specify and organize subdomains of an initial conceptual model. After expert refinement, the five primary domains included in the final model are clinical, emotional, behavioral, cognitive, and social, and several subdomains are specified within each.
We present an empirically informed conceptual model of perceived utility of GS. This model can be used to guide development of instruments for patient-centered outcome measurement that capture the range of relevant utilities and disutilities and inform clinical implementation of GS.
成功将基因组测序（GS）临床整合需要证明其效用。虽然 GS 可能对患者及其家庭在多个生活领域都具有潜在的益处（效用）或危害（不效用），但目前尚无对这些影响的实证信息概念模型。我们的目标是开发一个具有实证信息的 GS 感知效用概念模型，该模型涵盖了不同背景下患者及其家庭的效用和不效用。
我们采取了以患者为中心的方法，首先对现有文献进行了回顾，然后收集了主要的访谈数据。我们对来自七个临床测序证据生成研究（CSER）联盟项目的 60 名具有临床和社会政治多样性的成年人进行了半结构化访谈，以探索各种类型的效用。受访者个人接受过 GS 结果，或其子女接受过 GS 结果。使用主题分析对定性数据进行分析。访谈结果与临床和个人效用的现有文献相结合，形成了初始概念模型的基础，该模型基于专家审查和反馈进行了改进。
在我们的多样化样本中，之前在定性文献中确定的五种主要效用类型仍然是效用和不效用的主要领域。访谈数据用于指定和组织初始概念模型的子领域。经过专家改进，最终模型中包含的五个主要领域包括临床、情感、行为、认知和社会，并且在每个领域中都指定了几个子领域。
我们提出了一个具有实证信息的 GS 感知效用概念模型。该模型可用于指导开发以患者为中心的结果测量工具，以捕获相关效用和不效用的范围，并为 GS 的临床实施提供信息。
