Patient Safety in Genome Medicine: Learning from the Past to Safeguard the Future

项目总结 基因组检测为改善多种疾病的诊断和治疗提供了重大希望 医疗条件，但与所有临床护理一样，它的应用可能会发生可预防的错误。最近的一项研究， 例如，发现在诊断实验室进行的高达三分之一的临床基因测试是 订单不正确。基因组测试也可能被曲解或不正确地传达。这些错误可能 造成重大危害，包括误诊、指导不当或治疗无效，或错误 让人放心。随着基因组检测扩展到不同的临床环境，出错的可能性将增加。 因此，一个重要的机遇存在，而使基因组医学成为可能的基础设施仍在 开发，以确定与基因组测试相关的潜在医疗差错的来源 需要采取战略来缓解这些问题。在其他临床领域，在患者安全方面取得了重要进展 通过了解导致大多数医疗错误的系统故障，而不是简单地将其归咎于 单独的提供者。由于快速发展的基因组测试可能会带来新的患者安全挑战 证据基础，非专家更多地参与测试排序和解释，令人担忧 围绕基因组隐私，以及基因发现对生物亲属的影响。要解决这些问题 挑战我们需要更好地了解与基因组检测相关的潜在错误的范围， 从分析前的选择到分析后的咨询，正如遗传学专业人士所经历或预期的那样， 患者安全专家和一线临床医生。因此，这项研究的目的是确定哪里有医疗 在提供基因组药物和评估潜在的基于系统的方法以 减少差错，利用患者安全的镜头。具体来说，拟议的调查将：(1)确定， 通过关键信息提供人的访谈，医疗差错的主要类别(可预防的和不可预防的) (2)利用重点小组探索潜在的潜力 在卫生服务提供者群体中减少基因组检测中可预防错误发生率的方法 具有混合的临床专业知识；以及(3)通过匿名的基于网络的调查，调查和比较态度 全国遗传学专业人员和临床医生样本中可预防的基因组医疗差错 如果没有受过遗传学方面的专业训练。我们的研究将在患者领域之间提供关键的联系 安全性和基因组医学，确定有关与以下疾病相关的潜在错误范围的新信息 基因组测试，以及减轻这些错误的可行的基于系统的方法。这些数据将 为后续制定和评估干预措施奠定基础，旨在确定 并最大限度地减少与扩大临床基因组测试相关的错误。

PROJECT SUMMARY Genomic testing offers significant promise for improving the diagnosis and treatment of a broad array of medical conditions, but as with all clinical care, preventable errors may occur in its application. A recent study, for example, found that up to a third of clinical genetic tests performed in diagnostic laboratories were incorrectly ordered. Genomic tests may also be misinterpreted or incorrectly communicated. These errors can result in significant harms, including misdiagnosis, poorly directed or ineffective treatment, or false reassurance. As genomic testing is expanded to diverse clinical settings, the potential for errors will increase. Therefore an important opportunity exists, while the infrastructure to enable genomic medicine is still in development, to identify the sources of potential medical error associated with genomic testing and the strategies needed to mitigate them. In other clinical domains, important progress in patient safety has been made by understanding the system failures that underlie most medical errors rather than simply blaming individual providers. Genomic testing is likely to pose novel patient safety challenges due to a rapidly evolving evidence base, the increased involvement of non-specialists in test ordering and interpretation, concerns surrounding genomic privacy, and the implications of genetic findings for biological relatives. To address these challenges we need a better understanding of the range of potential errors associated with genomic testing, from pre-analytic choices to post-analytic counseling, as experienced or anticipated by genetics professionals, patient safety experts, and front-line clinicians. The aim of this study is therefore to identify where medical errors can occur in the delivery of genomic medicine and to evaluate potential systems-based approaches to mitigating error, utilizing the lens of the patient safety. Specifically, the proposed investigation will: (1) identify, via key informant interviews, the major categories of medical errors (both preventable and not preventable) expected to arise in the routine delivery of genomic medicine; (2) explore, using focus groups, potential approaches to reducing the incidence of preventable errors in genomic testing, in groups of health providers with mixed clinical expertise; and (3) with an anonymous web-based survey, investigate and compare attitudes toward preventable genomic medical errors among a national sample of genetics professionals and clinicians without specialist training in genetics. Our research will provide critical linkages between the fields of patient safety and genomic medicine, identifying new information about the range of potential errors associated with genomic testing, and about feasible systems-based approaches to mitigating those errors. These data will provide the foundation for the subsequent development and evaluation of interventions designed to identify and minimize errors associated with expanded clinical genomic testing.