Refining IT Support for Genetics in Medicine

完善对医学遗传学的 IT 支持

• 批准号: 7828666
• 负责人: DAVID W., MD,Msc BATES
• 金额: $ 49.56万
• 依托单位: BRIGHAM AND WOMEN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2011-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7828666
• 关键词: Accounting; Address; Area; Cardiology; Cardiomyopathies; Clinic; Clinical; Consult; Data; Decision Making; Development; Effectiveness; Electronic Health Record; Ensure; Erlotinib; Evaluation; Face; Gefitinib; General Hospitals; Genetic; Genetic screening method; Genome; Healthcare; Information Technology; Interview; Knowledge; Laboratories; Learning; Length; Malignant Neoplasms; Massachusetts; Measures; Medicine; Molecular Genetics; Molecular Medicine; Pathogenicity; Pathologist; Patient Care; Patients; Pharmaceutical Preparations; Physicians; Process; Professional counselor; Recommendation; Records; Reporting; Research Infrastructure; Resistance; Running; Surveys; System; Technology; Telephone; Test Result; Testing; Time; Translational Research; Update; Variant; Workload; base; care delivery; clinical care; design; genetic evolution; genetic profiling; genetic variant; improved; insight; oncology; patient population; satisfaction; stem; tool; usability

DESCRIPTION (provided by applicant): Refining Information Technology (IT) Support for Genetics in Medicine Challenge Area: Translational Science Challenge Topic: 15-LM-101 Presenting genome information in electronic health records The clinical use of genetic testing is expanding and as a result the number of variants identified in patients is growing. Knowledge of the clinical impact of these variants improves over time. However, the combination of more testing and the rapid evolution of genetic knowledge make it impossible for clinicians to fully account for the latest implications of their patients' genetic profiles as patient care decisions are made. This proposed study plans to enhance and evaluate IT infrastructure developed to provide timely genetic variant updates and patient search functionality to clinicians to assist in optimizing patient care. Partners HealthCare has deployed and is continuing to enhance laboratory and electronic health record (EHR) infrastructure designed to support clinician use of genetic data. A key initial piece of this infrastructure has been development of a display in the EHR of the results of genetic tests previously run in our Laboratory for Molecular Medicine. The enhancements that are currently planned will allow clinicians to proactively manage situations where new information is learned about variants previously identified in their patient population. In this proposal, we plan to study and evaluate the effectiveness of this infrastructure as it is deployed into two new settings: 1. Cardiology clinics that order significant numbers of cardiomyopathy tests currently face challenges managing genetic test results. Approximately 8% of these tests are reported as inconclusive due to the presence of variants of unknown significance, as well as the majority of cases with insufficient data to be sure of the pathogenicity of the variants identified. These germline variant test results must be reinterpreted on an ongoing basis and ensuring that this reinterpretation occurs and is communicated to the physicians and their patients is challenging. 2. Massachusetts General Hospital (MGH) has begun offering an oncology test that assesses 110 specific markers. The knowledge surrounding these markers will undoubtedly evolve, and mechanisms will be required to act on this new knowledge as it is learned. Taken together, we believe these clinical settings will provide valuable insights into how to enable the management of genetic data and knowledge so that it is effectively leveraged in the care delivery process as the use of these technologies expands. Key components of the evaluation will be: 1. To assess the usability of successive versions of our EHR genetic display screens and variant-based patient search functionality by performing formal usability testing on successive iterations of the these tools to identify approaches that will be most helpful to clinicians. 2. To assess the decision making process associated with issuing alerts relating to new knowledge on a germline variant. This will be accomplished by tracking genetic variant updates that are and are not released from the queue. The opinions and recommendations of geneticists, genetic counselors, and treating clinicians will be gathered through interviews and will be important to understanding the effectiveness of the decision making process. 3. To measure the impact on efficiency of the new genetic knowledge being incorporated into clinical care as a result of improved genetic IT infrastructure support. For the cardiomyopathy tests, the average length of time that transpires before clinicians learn of updates will be compared between the current telephone call-based mechanism and automated alerts. For the cancer tests, usage of the patient search function will be tracked and successive interviews with treating clinicians regarding its use will be conducted. 4. To evaluate the satisfaction of treating clinicians, perceived clinical impact, and net effect on workload associated with deploying genetic infrastructure, a combination of call tracking, genetic IT infrastructure usage data, and surveys of genetic counselors, geneticists and treating clinicians will be used. The use of genetics in medicine is rapidly increasing. The combination of more testing and the rapid evolution of genetic knowledge will make it impossible for clinicians to fully account for the latest implications of their patients' genetic profiles as patient care decisions are made. Scalable IT infrastructure designed to support clinician use of genetic data will be critical. This project will evaluate genetic IT infrastructure to proactively manage situations where new information is learned about previously reported genetic variants. Through usability studies, surveys, interviews, and usage data this project will evaluate: the usability of genetic display screens and variant-based patient search functionality, decision-making to determine proactive alerts about germline variant updates, efficiency of new genetic IT infrastructure support, and the satisfaction, perceived clinical impact, and net effect on clinician workload.

描述（由申请人提供）： 完善信息技术（IT）对医学遗传学的支持挑战领域：转化科学挑战主题：15-LM-101在电子健康记录中呈现基因组信息基因检测的临床应用正在扩大，因此在患者中识别的变异数量也在增加。随着时间的推移，对这些变体的临床影响的了解会有所提高。然而，更多的测试和遗传知识的快速发展相结合，使得临床医生在做出患者护理决策时无法充分考虑患者遗传特征的最新影响。这项拟议的研究计划加强和评估IT基础设施，为临床医生提供及时的遗传变异更新和患者搜索功能，以帮助优化患者护理。Partners HealthCare已经部署并将继续加强实验室和电子健康记录（EHR）基础设施，以支持临床医生使用遗传数据。这一基础设施的一个关键初始部分是在EHR中显示先前在我们的分子医学实验室中运行的基因检测结果。目前计划的增强功能将使临床医生能够主动管理有关先前在患者人群中发现的变异的新信息的情况。在本提案中，我们计划研究和评估该基础设施的有效性，因为它被部署到两个新的设置：1。订购大量心肌病检测的心脏病诊所目前面临着管理基因检测结果的挑战。这些测试中约有8%被报告为不确定的，因为存在未知意义的变体，以及大多数情况下没有足够的数据来确定所鉴定的变体的致病性。这些生殖系变异检测结果必须在持续的基础上重新解释，确保这种重新解释发生并传达给医生及其患者是具有挑战性的。2.马萨诸塞州总医院（MGH）已经开始提供一种评估110种特定标志物的肿瘤学测试。围绕这些标志的知识无疑将不断发展，需要有机制在学到这些新知识时对其采取行动。总的来说，我们相信这些临床环境将为如何管理遗传数据和知识提供有价值的见解，以便随着这些技术的使用扩展，在医疗服务过程中有效利用这些信息。评价的主要组成部分是：1.通过对这些工具的连续迭代进行正式可用性测试，以确定对临床医生最有帮助的方法，评估我们的EHR遗传显示屏幕和基于变体的患者搜索功能的连续版本的可用性。2.评估与发布有关生殖系变异新知识的警报相关的决策过程。这将通过跟踪从队列中发布和未发布的遗传变异更新来实现。遗传学家，遗传咨询师和治疗临床医生的意见和建议将通过访谈收集，并将是重要的，以了解决策过程的有效性。3.衡量由于遗传信息技术基础设施支持的改善而将新的遗传知识纳入临床护理对效率的影响。对于心肌病测试，临床医生了解更新之前的平均时间长度将在当前基于电话的机制和自动警报之间进行比较。对于癌症测试，将跟踪患者搜索功能的使用情况，并就其使用情况与治疗临床医生进行连续访谈。4.为了评价治疗临床医生的满意度、感知的临床影响以及与部署遗传基础设施相关的工作量净效应，将使用呼叫跟踪、遗传IT基础设施使用数据以及遗传咨询师、遗传学家和治疗临床医生调查的组合。遗传学在医学上的应用正在迅速增加。更多的测试和遗传知识的快速发展相结合，将使临床医生在做出患者护理决策时无法充分考虑患者遗传特征的最新影响。旨在支持临床医生使用遗传数据的可扩展IT基础设施将至关重要。该项目将评估遗传信息技术基础设施，以主动管理有关先前报告的遗传变异的新信息的情况。通过可用性研究、调查、访谈和使用数据，该项目将评估：遗传显示屏和基于变体的患者搜索功能的可用性、确定有关种系变体更新的主动警报的决策、新遗传IT基础设施支持的效率、满意度、感知的临床影响和对临床医生工作量的净影响。