Teaching Pedigree Analysis and Risk Calculation for Diagnosis Purposes of Genetic Disease

A Faculty of Medicine needs to respond appropriately to the rapid changes in medical education, to ensure that future geneticists are well trained to meet the challenges of medical practice. This paper presents five core requirements for a tool integrating new methodologies for teaching graduate-level a course of medical genetics. Our methodology presented here focuses on exploiting pedigree analysis in the field of medical genetics, particularly to explore them in the diagnosis of genetic diseases. Because of its important relevance as one of the skills that future medical practitioners must have, we designed this approach as a learning process supported by a tool. We also discuss an ongoing supported effort at utilizing common tools and IT resources to make it easier for the learners to reach their expected skill levels and provide them with a rich learning experience. We find that not only do our tool prototype has a positive impact on the learning process, practitioners also have expectations to feed a bio-bank of medical cases as inputs for future empirical studies. © 2020, The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG.