Pediatric Genetics in the Clinic

Abstract

Abstract Introduction This resource is a case-based learning module on pediatric genetics intended to introduce students to the genetic concepts of X-linked inheritance, dominant lethality, X-chromosome silencing, copy number variation, and variable expressivity. The author's own experience showed that these concepts were difficult to grasp through a single didactic session, so this active learning activity was created to help reinforce the concepts. Methods Prior to the session, learners are required to review the lecture notes and three prereadings. They should have access to the case 1 day prior to the session. During the 90-minute session, students work in small groups to complete nine tasks for investigating various genetic phenomena associated with two separate pediatric cases. All students should have access to computers with internet to help complete the assignment. Faculty should be available to help answer questions. Results This small-group activity has been used for 3 consecutive years at the author's institution, and participating students have reported this is a worthwhile educational experience. Upon completion of this case, students seemed to retain the information better as opposed to a regular lecture, supporting the effectiveness of using active-learning modules to introduce students to difficult genetic concepts. Discussion This case-based exercise exposes student participants to pedigree analysis, different forms of genetic transmittance, and the variable nature of the human genome and stresses utilization of biomedical databases. This activity may be suitable for a flipped classroom approach if paired with an introductory podcast.

Keywords

• X-Linked Genetics
• Phenotype
• CNV
• Chromosomal Abnormalities
• Variable Expressivity
• Lissencephaly