Living in a Genomic World
Unraveling the Complexity of GWAS Studies
Department of Biology
Department of Biology
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.
- Define terms such as single nucleotide polymorphisms, intron, and exon.
- Understand the difference between Mendelian and complex traits.
- Compare and contrast different sequencing technologies (e.g., microarray, whole genome sequencing, exome sequencing).
- Explore ethical issues of genetic testing.
- Analyze and interpret the effect of different types of genetic variation.
- Reflect on personal feelings about genetic testing.
- Explain the meaning of risk alleles and variants of unknown significance.
- Examine the impact of the environment on traits.
KeywordsGenetics; genetic testing; genomics; heredity; polygenic traits; SNP; SNPs; intron; exon; GWAS; VUS;
Topical AreasEthics, Regulatory issues
Educational LevelUndergraduate lower division, Undergraduate upper division
Type / MethodsDirected, Discussion
Subject HeadingsBiology (General) | Genetics / Heredity | Medicine (General) | Molecular Biology |