Problem: Teaching genetic diagnosis is required in all medical schools and physician assistant programs. However, with thousands of relevant findings and thousands more rare diseases, lectures and narrative resources are inadequate for the task. Whatever information that is taught is easily forgotten and does not carry over into the clinic. Many rare disease patients suffer through “diagnostic odysseys” (3 to 30 years to correct diagnosis). Approach: We used a commercially available diagnostic decision support system (DDSS) that encompasses all Mendelian disorders with known genes, together with other conditions in their differential diagnosis, and a case-based educational approach to teach diagnostic skills in a way that could then be replicated in the clinic. After a lecture, which included a demonstration using the DDSS with a sample case, 74 students were assigned to replicate the sample case at home and then complete 7 other anonymized cases, all with known rare diagnoses. After each case, students saved the “patient summary” that included the findings entered and differential diagnosis list and submitted it as homework. Students also completed a questionnaire about their experience, including satisfaction. Outcomes: Students were effective at diagnosing rare diseases in 483 of the 514 testing instances, a 94% success rate, with success defined as the correct diagnosis being listed in the differential diagnosis. Eighty-five percent of students rated this interactive learning session “highly,” encouraged us to repeat the assignment next year, and 89% reported that they wanted to use the DDSS during their clinical rotations in the coming year. Next Steps: We plan to refine the cases, add more material on findings, and ensure that all the synonyms students might use are in the software tool. We plan to repeat the program next year and recommend its use more widely in medical education.
PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases
