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、信息学和基因测试交叉点的独立研究员。为了实现这一目标，她将接受严格的培训，包括11门课程和指导教程，以补充她的定性研究技能，熟练掌握与遗传学相关的生物伦理学、与电子医疗记录健康信息技术有关的信息学，以及定量数据分析。该研究项目将使她能够应用通过正规教学获得的知识。在职业发展指导奖期间，Korngiebel博士将常驻华盛顿大学医学院生物医学信息学和医学教育系，这是一个独特的机构，旨在促进生物伦理学、信息学和基因测试方面的培训和研究。利用她的定性技能和通过培训获得的专业知识，Korngiebel博士将负责产生该研究项目的主要成果：一种用于林奇综合征测试的计算机化临床决策支持工具。基因测试是识别和减轻可遗传癌症风险的重要工具。一个例子是检测以识别林奇综合症，这是一种终生罹患结直肠癌风险很高的疾病。基因组在实践和预防中的应用评估计划建议对新诊断为CRC的个人进行林奇综合征筛查，以此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的测试过程的执行，包括强大的后续计划。在实施这一复杂过程时，卫生系统必须在检测过程的不同步骤确定知情同意程序，并确定它们对在其他系统接受护理的家庭成员的责任。在这一包括基因检测选择和未解决的伦理问题的复杂场景中，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对患者和家属进行随访。因此，研究项目将包括以下目标：1.通过与主要内容专家和决策者的访谈，确定关键的卫生系统要素和决策点，以适应UW Medicine内两家医院的结直肠肿瘤检测；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，确定成功部署利用电子医疗记录的本地临床决策支持工具进行诊断基因测试的障碍、促进者和优先事项；以及3.测试决策支持工具，以通过基于证据的可用性方法评估临床实用性和适宜性。

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.