Adverse drug reactions, side effects and the wide range of efficacy in patient responses to drugs have driven the need to identify the genetic variation that affects this. The Pharmacogenetics and Pharmacogenomics Knowledge Base (PharmGKB) is a unique on-line resource that contains genotype and phenotype data derived from individual members of the public who have agreed to allow their deidentified medical information to be used by the scientific community for pharmacogenetics and pharmacogenomics research (Klein et al, 2001). PharmGKB aims to promote shared information, providing data and analytical tools that will drive focused studies, with the ultimate goal of defining gene-drug-disease interactions. This knowledge will help to reduce drug toxicity and improve treatments, eventually impacting prescribing practice and leading to personalized medicine.

We have developed a database to store information from phamacogenetic studies. It is ordered and categorized for retrieval via a searchable web-based interface through pages devoted to genes, drugs, diseases and pathways. We use standard nomenclatures, such as HGNC for genes (Wain et al, 2004), MeSH for diseases, VA-NDF and Apelon for drugs (Chute et al, 2003), and have begun to develop an ontology for phenotypes (Altman et al, 2003). At present primary data has been submitted from studies by the Pharmacogenetics Reseach Network (PGRN), a consortium of groups funded by the Unites States National Institutes of Health. Their interests represent a range of diseases, including cancer, cardiovascular diseases and asthma, including genotype to phenotype studies and those with a phenotype to genotype approach, and both high throughput and drug pathway focused projects. PharmGKB also collects relevant literature annotations via the Community Project, where researchers can input references from Pubmed. We currently have data on over 1500 genes, 300 drugs and 200 diseases. Although the PharmGKB is freely available to all pharmacogenetics researchers it requires users to register for a password and agree to protect the privacy of the individuals from whom the data were collected.

PharmGKB is a valuable research tool that requires the contribution of the scientific community at large in order to really fulfill its potential. We are actively soliciting data from all pharmacogenetic and pharmacogenomic studies.

Altman RB et. al.,( 2003) Pharmacogenetics. Jan 13(1) 3-5.
Chute CG et. al., ( 2003 ) Proc AMIA ymp . 70-4.
Klein TE et. al., ( 2001 ) Pharmacogenomics J . 1(3)167-70.
Wain HM et. al., (2004) Nucleic Acids Res. 32 Database issue: D255-7.