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The Potential Perils of Pauline

Personal Genotyping for BRCA 1 and 2


George E. Keller
Department of Biological and Environmental Sciences
Samford University


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.

  • Review the central dogma of gene expression.
  • Differentiate between genotyping and sequencing and their implications for diagnosing disease.
  • Understand the basis of non-diagnosis-based genetic testing (such as offered by 23andMe), both its power and its limitations.
  • Describe how cell division is linked to cancer.
  • Describe the process of FDA approval of genetic tests.
  • Analyze information from genetic testing results with respect to future behaviors.
Keywords: Genetic testing; BRCA; cancer; cell growth regulation; 23andMe; genome; genotyping; gene sequencing;
Topical Area: Ethics
Educational Level: Undergraduate lower division, Undergraduate upper division
Formats: PDF
Type/Method: Directed
Language: English
Subject Headings: Biology (General)   Cell Biology   Genetics / Heredity   Molecular Biology  
Date Posted: 5/11/2018
Date Modified: N/A
Copyright: Copyright held by the National Center for Case Study Teaching in Science, University at Buffalo, State University of New York. Please see our usage guidelines, which outline our policy concerning permissible reproduction of this work.

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Supplemental Materials

The following resource is recommended for use with this case study.

  FDA Is Back On Board With A Breast Cancer Test
This brief podcast (4:36 min) features Emily Mullin of MIT Technology Review who sketches the pros and cons of the 23andMe BRCA1/BRCA2 test and what’s next for personal genetic testing.

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