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

项目摘要 基因组检测为改善各种疾病的诊断和治疗提供了重要的前景。 医疗条件，但与所有临床护理一样，在其应用中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临床基因测试中， 不正确的命令。基因组测试也可能被误解或不正确的沟通。这些错误可以 导致重大伤害，包括误诊，指导不当或无效的治疗，或错误的 安心随着基因组检测扩展到不同的临床环境，错误的可能性将增加。 因此，一个重要的机会存在，而基础设施，使基因组医学仍然是在 开发，以确定与基因组检测相关的潜在医疗错误的来源， 需要采取措施来缓解这些问题。在其他临床领域，患者安全性方面取得了重要进展， 通过理解大多数医疗错误背后的系统故障，而不是简单地指责 个别供应商。基因组检测可能会带来新的患者安全挑战，因为快速发展的 证据基础，越来越多的非专家参与测试排序和解释，关注 围绕基因组隐私，以及遗传发现对生物亲属的影响。解决这些 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，本研究的目的是确定医疗 错误可能发生在基因组药物的交付和评估潜在的系统为基础的方法， 减轻误差，利用患者安全的透镜。具体而言，拟议的调查将：（1）确定， 通过对关键知情人的访谈，医疗差错的主要类别（可预防和不可预防） 预期将出现在常规交付的基因组医学;（2）探索，使用焦点小组， 减少健康提供者群体中基因组检测中可预防错误发生率的方法 混合临床专业知识;（3）通过匿名网络调查，调查和比较态度 在全国遗传学专业人员和临床医生样本中， 没有遗传学的专业训练。我们的研究将提供患者领域之间的关键联系 安全性和基因组医学，确定与以下方面相关的潜在错误范围的新信息 基因组测试，以及基于系统的可行方法来减轻这些错误。这些数据将 为随后制定和评估干预措施奠定基础， 并使与扩大的临床基因组测试相关的误差最小化。

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.