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Genetic Testing

It’s a Relative Question


Author(s)

Melissa R. Eslinger
Department of Chemistry and Life Science
United States Military Academy
melissa.eslinger@westpoint.edu
Ryan E. Rodriguez
Department of Chemistry and Life Science
United States Military Academy
ryan.rodriguez@westpoint.edu
Jonathan W. Roginski
Mathematical Sciences, Network Science Center
United States Military Academy
jonathan.roginski@westpoint.edu

Abstract

This case study centers on “Tom,” a 43-year-old male patient, and his recent genetic sequencing results and diagnosis of multiple endocrine neoplasia type 2 (MEN2A). Tom has a heterozygous mutation within the RET gene, a proto-oncogene, which contributes to this autosomal dominant disease exhibiting a spectrum of phenotypes, including thyroid cancer. These results raise issues not only with his own treatment but with the potential testing of his two children and unborn child. This directed case, suitable for undergraduate genetics or upper-level cell biology students, integrates multiple inheritance-based concepts. Through Tom’s situation, students examine the effects of his mutation at the cellular level as they navigate national bioinformatics repositories to understand the biological basis of the disease. Specifically, students apply and interpret patterns of inheritance while exploring how mutations disrupt cell cycling contributing to the clinical symptoms and oncogenesis.  With foundational knowledge of the disease, students consider Tom’s family history and reconcile genetic testing recommendations with ethical and parental considerations for the testing of adults, children, and pregnant women.


Objectives

  • Use bioinformatic databases to understand the clinical significance and biological basis of disease.
  • Construct a pedigree and analyze inheritance within a family.
  • Discuss ethical considerations for the genetic testing of adults, children, and pregnant women.

Keywords

Genetic testing; bioinformatics; inheritance; mutations; oncogenes; RET; neoplasia; thyroid; cancer; MEN2A; proto-oncogene

Topical Areas

Ethics

Educational Level

Undergraduate lower division, Undergraduate upper division

Format

PDF, PowerPoint

Type / Methods

Directed, Discussion, Interrupted

Language

English

Subject Headings

Bioinformatics  |   Cell Biology  |   Genetics / Heredity  |  


Date Posted

1/14/2020

Teaching Notes

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Supplemental Materials

The optional PowerPoint presentation below provides an overview of bioinformatics and the databases used in this case study. Students practice navigating NCBI resources while learning more about an Alzheimer’s-related gene.


  gen_test_oncogene.pptx

Answer Key

Answer keys for the cases in our collection are password-protected and access to them is limited to paid subscribed instructors. To become a paid subscriber, begin the process by registering.

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