BETHESDA, MD—To help advance research on how genes affect responses to medicines, NIH is spending $15 million over five years to expand the Pharmacogenomics Knowledge Base (PharmGKB). Begun in 2000 to catalog links between human genetic variation and drug responses, the PharmGKB website—www.pharmgkb.org—is now a centralized hub that collects, analyzes, and integrates data for national and international research consortia. All information in PharmGKB is annotated and cross-referenced with related research data.
PharmGKB, which is freely available to the scientific community, identifies biochemical pathways influenced by specific drugs and provides detailed summaries of key genes that influence a person’s response to a broad array of medicines. PharmGKB also includes six staff scientists and six software engineers who conduct research, collaborate with other investigators, and build the software infrastructure supporting PharmGKB.
In a 2009 study, PharmGKB researchers, together with scientists from Europe, Asia, South America, and the Middle East, were able to utilize patients’ genetic information to better predict their optimal doses of warfarin, a widely used blood thinner that is tricky to dose. The concept of using genotyping in this way is now being tested in a large-scale clinical trial sponsored by the National Heart, Lung, and Blood Institute.
PharmGKB and other scientists also analyzed a person’s entire genome to identify variations associated with disease risk and adverse drug reactions.
During the next five years, PharmGKB plans to develop tools that automatically extract information from the biomedical literature and key databases; intensify its focus on understanding the molecular basis for drug toxicity and multiple-drug interactions; analyze the genomes of additional individuals, including a family that has volunteered to be studied; and develop guidelines for doctors about the use of genetic tests to customize dosages when prescribing certain medicines.
PharmGKB is part of a broader NIH pharmacogenomics initiative which includes individual research projects and a nationwide research consortium, the NIH Pharmacogenomics Research Network. NIH plans to spend over $160 million through the network over the next five years to fund research projects focusing on how genes affect drug responses.