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Updated: May 18, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Pharmacogenomics knowledge for personalized medicine.
M Whirl-Carrillo1, E M McDonagh, J M Hebert
1Department of Genetics, Stanford University, Palo Alto, California, USA.
Clinical Pharmacology and Therapeutics
|September 21, 2012
Summary
The Pharmacogenomics Knowledgebase (PharmGKB) curates genetic variation data impacting drug responses. This resource aids personalized medicine by providing evidence-based gene-drug associations and dosing guidelines.
Area of Science:
- Pharmacogenomics
- Genetics
- Drug Discovery
Background:
- Human genetic variation significantly influences individual drug responses.
- Personalized medicine requires robust data linking genetic profiles to drug efficacy and safety.
- Existing resources need comprehensive, curated information for clinical application.
Purpose of the Study:
- To describe the Pharmacogenomics Knowledgebase (PharmGKB) as a comprehensive resource.
- To highlight PharmGKB's role in disseminating clinically relevant pharmacogenomic information.
- To emphasize the utility of PharmGKB in supporting personalized medicine initiatives.
Main Methods:
- PharmGKB collects and curates data on human genetic variation and drug responses.
- Information includes gene-drug associations, genotype-phenotype relationships, and dosing guidelines.
- Curators assign evidence levels to variant-drug associations based on literature review.
Main Results:
- PharmGKB provides a centralized repository of pharmacogenomic data.
- It offers clinically actionable information, including annotated drug labels.
- Evidence levels are assigned using defined criteria, ensuring data quality.
Conclusions:
- PharmGKB is a valuable, high-quality resource for pharmacogenomic information.
- The knowledgebase supports the implementation of personalized medicine projects.
- It facilitates the translation of genetic insights into clinical practice.
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