Pharmacogene Variation Consortium

A consortium focused on pharmacogenomic variation

PharmVar logo

The Pharmacogene Variation Consortium (PharmVar) is an international collaborative effort that focuses on the collection, curation, and dissemination of information about genetic variations in genes that are important for drug metabolism, transport, and response. These genes, known as pharmacogenes, play a critical role in pharmacogenomics, which is the study of how genetic variation affects an individual's response to drugs.

History

The Pharmacogene Variation Consortium was established to address the need for a centralized resource that provides standardized information on genetic variations in pharmacogenes. It evolved from earlier efforts such as the Human Cytochrome P450 Allele Nomenclature Database, which was focused on the cytochrome P450 family of enzymes. Over time, the scope of the consortium expanded to include a broader range of pharmacogenes.

Objectives

PharmVar aims to:

• Provide a comprehensive and up-to-date repository of pharmacogene variation data.
• Standardize the nomenclature for genetic variants in pharmacogenes.
• Facilitate research and clinical implementation of pharmacogenomics by providing reliable data.
• Collaborate with other organizations and databases to integrate pharmacogenomic information.

Structure

PharmVar is governed by an international board of experts in the field of pharmacogenomics. The consortium includes scientists, clinicians, and bioinformaticians who contribute to the curation and management of the database. The consortium works closely with other initiatives such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Pharmacogenomics Knowledgebase (PharmGKB).

Database

The PharmVar database is an online resource that provides detailed information about genetic variants in pharmacogenes. It includes data on:

• Allele definitions and nomenclature
• Functional effects of genetic variants
• Population frequency data
• Links to relevant literature and clinical guidelines

Impact

PharmVar plays a crucial role in advancing the field of pharmacogenomics by providing a standardized framework for the interpretation of genetic data. This facilitates the development of personalized medicine approaches, where drug therapy can be tailored to an individual's genetic makeup, improving efficacy and reducing adverse drug reactions.

Related pages

• Pharmacogenomics
• Cytochrome P450
• Clinical Pharmacogenetics Implementation Consortium
• Pharmacogenomics Knowledgebase