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Pharmacogenetics: Using Genetics to Treat Disease


Jeanne Ting Chowning

Rainier Scholars


This case study investigates the applications of genetics to medicine by exploring one of the first examples of a pharmacogenetic test to enter mainstream clinical practice. Pharmacogenetics examines how genetic variations in an individual correlate with responses to a specific medication in order to develop tailored medical treatments. Through a scenario based on clinical observations, students learn about acute lymphocytic leukemia as well as the wide range of individual responses to the drug used to treat it. Then, students interpret data similar to those initially published in scientific journals in order to construct an understanding of how genetic variation can be used to “tailor” medical care. Lastly, students are asked to apply their understanding of what they have learned in the case by making the appropriate medical recommendation based on a particular individual’s genotype.


  • Use scientific/case study data and interpret graphs in order to draw conclusions.
  • Understand how individual genetic variation can impact medical practice and clinical outcomes, using the example of leukemia and thiopurine methyltransferase (TPMT).
  • Predict how polymorphisms in the gene for TPMT indicate courses of medical care for particular individuals.


Pharmacogenetics; personalized medicine; acute lymphocytic leukemia; thiopurine drugs; drug metabolism; thiopurine methyltransferase gene; TPMT

Topical Areas

Ethics, Legal issues, Social justice issues

Educational Level

High school, Undergraduate lower division, Undergraduate upper division, Professional (degree program)



Type / Methods

Interrupted, Role-Play



Subject Headings

Molecular Biology  |   Genetics / Heredity  |   Biotechnology  |   Medicine (General)  |   Pharmacy / Pharmacology  |   Nursing  |   Biomedical Engineering  |   Bioinformatics  |   Biology (General)  |  

Date Posted


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Ashland Brown

I found your lesson last night while researching the TPMT test that is being run on our son. You do a great job! We are waiting for his results. He is 11 and has ALL. I have no scientific background but anything I can learn is appreciated. Thank you for the info!

Jacqueline Curls
Curriculum Services
Lee County Public Education Center
Fort Myers, FL
This is an amazing case study and completely relevant to current treatment. I look forward to utilizing it in my Biological Science course this Spring. My one concern, however, is that the ending seems rather unrealistic that removing the drug allows Laura's condition to "improve rapidly" without mentioning a need for a different alternative to fight the ALL. Would it be possible to say she stabilized very quickly and allude to another drug being considered?


National Center for Case Study Teaching in Science
University at Buffalo
Buffalo, New York
Thanks for the suggestion, Jacqueline. We forwarded it to the author and she agreed it would be good to modify this, though she preferred to keep it general. We have changed the case so that this now reads: "Dr. Ryder responded quickly to Laura's drug reaction. She discontinued the drug while alternate treatment regimens were explored, and Laura's condition began to improve."