Genetic Risk for Recessively Inherited Disease (Duchenne Muscular Dystrophy and Congenital Hearing Loss)

Abstract Introduction This resource is a team-based learning (TBL) module on genetic risk and was developed for use in the inaugural semester of our revised undergraduate medical curriculum, where it was used to provide first-year medical students with an active learning experience to reinforce basic concepts of medical genetics. Methods Students arrive at the session having reviewed preassigned readings. They then took an individualized readiness assurance test (IRAT), before breaking into preassigned teams and taking a team readiness assurance test (TRAT). In groups they then completed a series of application exercises (AEs) designed to allow teams to apply the concepts from the learning objectives and the assigned readings to clinical scenarios. Principles of medical genetics and approaches to risk assessment are applied to two case-based application exercises (autosomal recessive and X-linked recessive). Students are required to construct pedigrees, make Mendelian risk estimates, and incorporate relevant principles of medical genetics in a decision-making process. The exercise also addresses issues related to medical ethics and genetic counseling. Results This resource was piloted with a small group of student volunteers in 2010 and then delivered as a required activity for the entire first-year class in 2011. Excellent student engagement was observed throughout the exercise. Mean scores on the readiness assessment test (RAT) were 72.1% (SD = 18.5) on the IRAT and 98.7% (SD = 2.2) on the TRAT. Discussion The effectiveness of this resource lies in the group experience of applying basic science knowledge to case-based scenarios. Additionally, the AEs touch on biomedical ethics and genetic counseling, topics that are difficult to teach in a traditional classroom setting. By the conclusion of the module, students improved their problem-solving skills in assessing genetic risk for X-linked recessive and autosomal recessive diseases. They gained experience in applying principles of medical genetics and had an opportunity to explore issues relevant to genetic counseling for future disease risk in a family.