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Pharmacogenetics: How Genetic Information Is Used to Treat Disease


Maureen Knabb
Department of Biology
West Chester University of Pennsylvania


In this clicker case, two teenagers are diagnosed with Acute Lymphoblastic Leukemia (ALL), a cancer of the bone marrow where there is an abnormal overproduction of lymphocyte precursors. The girls' reactions to treatment are very different, however, due to genetic differences that alter the metabolism of the chemotherapeutic agent. This specific example of pharmacogenetics, how genetic testing can be used to treat ALL, is later expanded to consider the wider area of pharmacogenomics, where genome-wide testing can provide information about the most appropriate treatment for individuals based on their genetic profile.  This clicker adaptation is based on "Pharmacogenetics: Using Genetics to Treat Disease" by Jeanne Ting Chowning, published as part of the case collection of the National Center for Case Study Teaching in Science in 2010. It has been reformatted as a PowerPoint lecture with multiple choice questions (clicker questions) embedded in the lecture to reinforce important concepts. The case is appropriate for a large enrollment course in a human anatomy and physiology or an upper-level physiology course; it can also be used in molecular biology, genetics, pre-pharmacy, or pharmacology courses.


  • Distinguish the function of different types of blood cells and apply this information to the normal versus abnormal results of clinical tests used to evaluate disease.
  • Recognize the important role of the bone marrow for the production of different types of blood cells.
  • Describe the disease acute lymphoblastic leukemia (ALL) and how it is treated.
  • Explain how a mutation in the gene coding for a protein enzyme associated with inactivation of the chemotherapeutic agent used to treat ALL can lead to toxic side effects, and the strategy for treating individuals with this mutation.
  • Analyze data from the primary literature to understand the mechanism responsible for different responses to a drug.
  • Predict treatment options given another drug with different genetic polymorphisms.
  • Relate the specific case of ALL treatment to the broader field of pharmacogenomics and conclude that genetic testing will become an important component in personalized medicine.


Blood cell structure and function; pharmacogenomics; acute lymphoblastic leukemia (ALL); thiopurines; drug metabolism; thiopurine methyltransferase gene; TMPT; polymorphism; personalized medicine; data analysis; quantitative reasoning

Topical Areas


Educational Level

Undergraduate lower division, Undergraduate upper division, Graduate, Clinical education


PDF, PowerPoint

Type / Methods

Clicker, Interrupted, Journal Article



Subject Headings

Biology (General)  |   Cell Biology  |   Molecular Biology  |   Genetics / Heredity  |   Physiology  |   Biochemistry  |   Medicine (General)  |   Pharmacy / Pharmacology  |   Nursing  |   Bioinformatics  |  

Date Posted


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