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George E. Keller
Associate Professor
Department of Biological and Environmental Sciences
Samford University
The Potential Perils of Pauline : Personal Genotyping for BRCA 1 and 2

This directed case study follows the story of “Pauline,” a 20-year-old college student who has just received results from a personal genetic testing kit she purchased online. The report shows a negative result for variants of the BRCA 1 and 2 genes, which are associated with a greater risk for breast cancer. Although Pauline has a family history of breast cancer, she concludes that she no longer needs to be concerned, or does she? As students work through the questions in this case study, they review the role of genes and how they code for proteins as well as the effects of proteins on health, especially on cellular growth regulation and cancer. They also learn about the process of genetic testing and consider the ramifications of positive and negative tests for diseases or health conditions, especially with respect to breast cancer. The case is designed for non-science majors in a scientific methods course and could also be used in an introductory biology course. The questions in the case could be adapted for an upper level genetics class.