Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices

Abstract

Genetics is an essential subject to be mastered by health professional students of all types. However, technological advances in genomics and recent pedagogical research have changed the way in which many medical training programs teach genetics to their students. These advances favor a more experience-based education focused primarily on developing student's critical thinking skills. In this review, we examine the current state of genetics education at both the preclinical and clinical levels and the ways in which medical and pedagogical research have guided reforms to current and emerging teaching practices in genetics. We discover exciting trends taking place in which genetics is integrated with other scientific disciplines both horizontally and vertically across medical curricula to emphasize training in scientific critical thinking skills among students via the evaluation of clinical evidence and consultation of online databases. These trends will produce future health professionals with the skills and confidence necessary to embrace the new tools of medical practice that have emerged from scientific advances in genetics, genomics, and bioinformatics.

Keywords: active learning; genetics education; medical genetics; pedagogical practice; problem-based learning.

Figure 1

Sample exercise for teaching basic principles in gene expression. Notes: In (A and B), the principles of the “Central Dogma” of molecular biology are illustrated in which DNA is transcribed into RNA and subsequently translated into protein. The amount of protein produced as well as the subsequent protein amino-acid sequence impacts both cellular phenotype and disease susceptibility. (A) In some cases, the allele from each parent is expressed. In specific cases like blood typing, codominance occurs in which each of the alleles expresses distinct functions. (B) In other cases, only a single allele is expressed due to regulatory elements in the DNA sequence, regulatory RNAs, or epigenetic changes including methylation (M). Mosaicism occurs during X-inactivation with different alleles being silenced in the same individual. (C) As an exercise, students are provided a DNA genotype including mutant alleles (eg, CFTR delta F508) and are asked to complete the diagram for wild type and mutant.