Ethically responsible clinical decision support for Lynch Syndrome screening

描述（由申请人提供）：Korngiebel博士的长期目标是成为生物伦理学，信息学和基因检测交叉领域的独立研究人员。为了实现这一目标，她将接受严格的培训，包括11门课程，并辅以指导教程，以补充她的定性研究技能，熟练掌握遗传学相关的生物伦理学、电子医疗记录健康信息技术信息学和定量数据分析。这个研究项目将使她能够运用在正式教学中获得的知识。在获得指导职业发展奖期间，Korngiebel博士将在华盛顿大学医学院的生物医学信息学和医学教育系工作，这是一个独特的机构，旨在促进生物伦理学、信息学和基因检测方面的培训和研究。利用她的定性技能和通过培训获得的专业知识，Korngiebel博士将负责生产研究项目的主要成果：用于Lynch综合征测试的计算机化临床决策支持工具。基因检测是识别和减轻遗传性癌症风险的重要工具。一个例子是检测林奇综合症，这是一种终生患结直肠癌的高风险疾病。基因组在实践和预防中的应用评估项目推荐在新诊断为CRC的个体中筛查Lynch综合征，作为改善患者和家庭成员健康结果的一种手段。然而，这种方法的成功依赖于有效测试过程的执行，包括一个健全的后续计划。在实施这一复杂过程时，卫生系统必须确定检测过程中不同步骤的知情同意程序，以及它们对在其他系统接受治疗的家庭成员的责任。在这种包含基因检测选择和未解决的伦理问题的复杂情况下，计算机化的临床决策支持工具可以提供一种及时的方法，指导订购临床医生完成检测过程，并与患者和家属进行随访。因此，研究项目将包括以下目标：1。通过与关键内容专家和决策者的访谈，确定在华盛顿大学医学院的两家医院环境中适应结肠直肠肿瘤检测的关键卫生系统要素和决策点；2. 通过对遗传学家和非遗传学家的访谈和有针对性的调查，确定成功部署用于利用电子病历的诊断基因测试的本地临床决策支持工具的障碍、促进因素和优先事项；和3。测试决策支持工具，通过基于证据的可用性方法评估临床效用和适当性。

DESCRIPTION (provided by applicant): Dr. Korngiebel's long-term goal is to become an independent researcher at the intersection of bioethics, informatics, and genetic testing. To work toward this goal, she will receive rigorous training that includes 11 courses supplemented by directed tutorials in order to complement her qualitative research skills with proficiency in genetics-related bioethics, informatics pertaining to Electronic Medical Record Health Information Technology, and quantitative data analysis. The research project will allow her to apply the knowledge gained through formal instruction. During the mentored career development award, Dr. Korngiebel will be based in the Department of Biomedical Informatics and Medical Education at the University of Washington School of Medicine, an institution uniquely situated to facilitate training and research in bioethics, informatics, and genetic testin. Using her qualitative skills and the expertise gained through training, Dr. Korngiebel will be responsible for producing the main deliverable of the research project: a computerized Clinical Decision Support tool for Lynch Syndrome testing. Genetic tests are important tools for identification and mitigation of heritable cancer risk. An example is testing to identify Lynch Syndrome, a condition which confers a high lifetime risk of colorectal cancer. The Evaluation of Genomic Applications in Practice and Prevention program recommends screening for Lynch Syndrome in individuals newly-diagnosed with CRC as a means to improve health outcomes in both patients and family members. However, this approach's success is dependent on execution of an effective testing process, including a robust follow-up program. In implementing this complex process, health systems must determine informed consent procedures at different steps in the testing process and their responsibility toward family members receiving care in other systems. In this complicated scenario encompassing both genetic test choices and unaddressed ethical issues, a computerized clinical decision support tool can offer a timely means of guiding ordering clinicians through the testing process and follow-up with patients and families. Therefore, the research project will comprise the following aims: 1. Identify through interviews with key content experts and decision-makers the critical health system elements and decision points for adaptation of colorectal tumor testing in two hospital settings within UW Medicine; 2. Identify through interviews and targeted surveys of geneticists and non-geneticists the barriers, facilitators, and priorities for successfully deploying a local clinical decision suport tool for diagnostic genetic tests that leverages the Electronic Medical Record; and 3. Test the decision support tool to evaluate clinical utility and appropriateness through evidence-based usability methods.