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Erin L. Zimmer
Department of Biology
Lewis University
Living in a Genomic World: Unraveling the Complexity of GWAS Studies

This directed case study was developed in order to present genomic data to students, allow them to interpret the impact of genetic variations on phenotype, and to explore precision medicine. Students are introduced to "Josie," a college sophomore who decides to have her genome sequenced after learning about genome-wide association studies (GWAS) in class. As students work through the case, they learn about the different technologies that can be used in GWAS studies and interpret Josie's results for a subset of genetic markers that affect a range of traits from pharmacogenetics to disease risk alleles and non-pathogenic traits. Students are confronted with ethical issues such as duty to inform, actionable results, and variants of unknown significance (VUS). Students also are asked to reflect on their feelings about getting genomic testing for themselves. An optional activity for advanced students (included in the teaching notes) involves using the Gene database at NCBI to explore variants of the CYP2C9 gene. The case study is appropriate for use in undergraduate genetics or molecular biology classrooms.