Pharmacogenomics
General Resources
Introduction to Pharmacogenomics
Pharmacogenomics and its Role in Precision Medicine
Important Resources used by experts in this field
Pharmacogenomics (PGx) Resource List
Pharmacogene Variation Consortium (PharmVar)
- A central repository for pharmacogene (PGx) variation that focuses on haplotype structure and star allele definitions
- PharmVar works to unify and standardize PGx nomenclature
- The information in this resource facilitates basic and clinical research as well as the interpretation of pharmacogenetic test results to guide precision medicine
- Tutorial on CYP2D6 copy number analysis that is highly recommended: click here
Clinical Pharmacogenetics Implementation Consortium (CPIC)
- International consortium of individual volunteers and a small, dedicated staff who are interested in facilitating the use of pharmacogenetic tests for patient care
- CPIC provides curated, evidence-based guidelines that provide prescription recommendations for gene-drug pairs
- Useful resource for physicians and laboratorians
- Sign up for CPIC email updates here: CPIC (list-manage.com)
Pharmacogenomic Knowledgebase (PharmGKB)
- Comprehensive resource that curates knowledge about the impact of genetic variation on drug response for clinicians and researchers.
- Gene-specific Information Tables are available for download, allowing for automation of PGx laboratory reports: https://www.pharmgkb.org/page/pgxGeneRef
- Catalog of drug dosing guidelines and drug labels with PGx information
- Sign up for PharmGKB email updates here: PharmGKB (list-manage.com)
Association for Molecular Pathology (AMP)
AMP publishes recommendations for minimum sets of genes and/or alleles to include on clinical PGx tests, thereby guiding the standardization of clinical
PGx assays
Notice and Disclaimer/Limitation of Liability of Resource Use
Data and information obtained from the Cancer Genomics Consortium (CGC) and the Geneticist Toolkit are provided as an educational resource only; they should not be used as a stand-alone resource for clinical decision making or reporting, as they may contain errors or omissions. Review of the data by an appropriately trained medical professional is required for clinical reporting. Some of these resource pages may include links to content created by commercial entities and/or which require a fee for service; the inclusion of such material is meant for educational purposes only and does not represent an endorsement of these entities by the CGC.
The CGC and all participating entities make no representation or warranty, express or implied, including without limitation any warranties of merchantability or fitness for a particular purpose or warranties as to the identity or ownership of data or information, the quality, accuracy or completeness of data or information, or that the use of such data or information will not infringe any patent, intellectual property or proprietary rights of any party. The CGC shall not be liable for any claim for any and all loss, harm, illness or other damage or injury arising from access to or use of data or information howsoever caused, including without limitation, any direct, indirect, incidental, exemplary, special or consequential damages, even if advised of the possibility of such damages. The data and information obtained from the Geneticist Toolkit shall not be used as a substitute for the user's skills, expertise and experience.
Data and information obtained from the Cancer Genomics Consortium (CGC) and the Geneticist Toolkit are provided as an educational resource only; they should not be used as a stand-alone resource for clinical decision making or reporting, as they may contain errors or omissions. Review of the data by an appropriately trained medical professional is required for clinical reporting. Some of these resource pages may include links to content created by commercial entities and/or which require a fee for service; the inclusion of such material is meant for educational purposes only and does not represent an endorsement of these entities by the CGC.
The CGC and all participating entities make no representation or warranty, express or implied, including without limitation any warranties of merchantability or fitness for a particular purpose or warranties as to the identity or ownership of data or information, the quality, accuracy or completeness of data or information, or that the use of such data or information will not infringe any patent, intellectual property or proprietary rights of any party. The CGC shall not be liable for any claim for any and all loss, harm, illness or other damage or injury arising from access to or use of data or information howsoever caused, including without limitation, any direct, indirect, incidental, exemplary, special or consequential damages, even if advised of the possibility of such damages. The data and information obtained from the Geneticist Toolkit shall not be used as a substitute for the user's skills, expertise and experience.
