PURPOSE
Medical genetics covers topics from the molecular to the clinical levels.
Foundational genetics and clinical examples are often introduced in the first
few weeks of the curriculum before students have enough background to
understand their pathogenetic mechanisms. When these disorders reappear in
organ-system sections, they are often taught without prior context or clear
phenotypic explanation, which encourages memorization rather than
understanding how a disease develops (gene ? protein ? pathway ? tissue ?
phenotype). To improve this, we created the Genetic Disease Chart, a
framework that promotes integration, pattern recognition, and lasting
conceptual understanding throughout the curriculum.
METHODS
The Genetic Disease Chart offers a structured overview of over 60 disorders
included in the preclinical curriculum. Conditions are first listed by week
as they are introduced in coursework, then reorganized into mechanistic or
phenotypic groups at the end of the course. Using a consistent template that
highlights key phenotypic features, the chart develops throughout the courses
to support a spiral approach to genetics education. The chart helps reduce
cognitive load and simplifies comparisons of related diseases.
RESULTS
Students reported that the chart was clear, organized, and helpful for
understanding how related disorders connect and how mechanisms relate to
clinical features. Creating the chart revealed redundancies, gaps, and
inconsistencies, making it a useful tool for curricular development.
CONCLUSIONS
The Genetic Disease Chart provided a cohesive, spiral-aligned framework
that organized complex genetics content, reduced cognitive load, and improved
students’ ability to link mechanisms to patient phenotypes. This model
supports ongoing integration of genetics across organ-system courses and
enhances coherence across foundational science areas.