Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Pharmacogenetics: has it reached the clinic?

Janice B Schwartz¹

¹Long-Term Care Research Center, Institute on Aging/Jewish Home, 302 Silver Ave, San Francisco, CA 94112, USA.

The Journal of Gender-Specific Medicine : JGSM : the Official Journal of the Partnership for Women'S Health at Columbia

|April 27, 2002

Summary

Genetic variations in drug-metabolizing enzymes impact drug response. Testing thiopurine transferase activity is crucial for patients receiving thiopurines like 6-mercaptopurine to prevent severe complications.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Predictors of Clinical Trial Participation Among Older U.S. Adults With Multimorbidity: A Cross-Sectional Survey.

Clinical and translational science·2026

Same author

Attitudes About Clinical Trials of Medications in Older Hispanic/Latino Adults With Multimorbidity.

Journal of the American Geriatrics Society·2025

Same author

Preferences Regarding Clinical Drug Trial Elements: A Nationally Representative Survey of Older Adults With Multimorbidity.

Journal of the American Geriatrics Society·2025

Same author

Why patients fail to seek information on OTC product interactions with a direct-acting oral anticoagulant: perspectives on information-seeking.

BMC primary care·2025

Same author

"Unjustified Partiality or Impartial Bias? Reckoning with Age and Disability Discrimination in Cancer Clinical Trials".

The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics·2024

Same author

Navigating the Path to Inclusion: Understanding Barriers and Facilitators to Clinical Trial Participation Among Chinese Older Adults in the United States with Multimorbidity.

Journal of general internal medicine·2024

Area of Science:

Pharmacogenomics
Clinical Pharmacology

Background:

Genetic variations in drug-metabolizing enzymes (DMEs) are a key factor in inter-individual variability of drug responses.
The clinical significance of numerous polymorphisms is currently being uncovered, with rapid advancements in this field.
While polymorphism frequencies differ significantly across racial and ethnic groups, substantial sex-based variations have not been documented.

Purpose of the Study:

To review the current understanding of genetic variations in drug-metabolizing enzymes and their clinical implications.
To highlight the importance of specific genetic testing in certain clinical scenarios.

Main Methods:

Literature review and synthesis of existing research on pharmacogenomics and drug metabolism.
Analysis of data regarding polymorphism frequencies and clinical outcomes.

Main Results:

Genetic polymorphisms in DMEs significantly influence drug efficacy and toxicity.
Thiopurine S-methyltransferase (TPMT) genetic variation is a critical determinant of thiopurine drug safety and efficacy.
No major sex-based differences in polymorphism frequency have been reported.

Conclusions:

Genetic testing for DMEs is generally not recommended, with notable exceptions.
Determining thiopurine transferase activity is essential for patients undergoing thiopurine therapy (e.g., 6-mercaptopurine, azathioprine) to mitigate life-threatening risks and ensure therapeutic effectiveness.

Related Experiment Videos