Ethically responsible clinical decision support for Lynch Syndrome screening

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. PUBLIC HEALTH RELEVANCE: The proposed computerized Clinical Decision Support tool would tackle a health-care system-wide issue of tailoring routine clinical care to accommodate local needs, reflect a nationally developing standard of practice for universal colorectal cancer tumor testing for Lynch Syndrome, and address bioethical issues of informed consent and returning findings to patients and their families concerning heritable colorectal cancer. The improvement in care and information conveyance could, ultimately, save lives and deliver on the promise of personalized genomic medicine.