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NIH expands key pharmacogenomics resource

To help advance research on how genes affect responses to medicines, the National Institutes of Health is spending $15 million over five years to expand a key resource, the Pharmacogenomics Knowledge Base (PharmGKB), .

The goal of pharmacogenomics is to use information about a patient's genetic make-up to optimize his or her medical treatment. As the field has grown, so has PharmGKB. Begun in 2000 to catalog links between human genetic variation and drug responses, the PharmGKB Web site is now a centralized hub that collects, analyzes and integrates data for national and international research consortia. All information in PharmGKB is carefully curated, meaning it is annotated and cross-referenced with related research data.

"PharmGKB is a trusted source for curated knowledge about pharmacogenomics," said Jeremy M. Berg, director of the National Institute of General Medical Sciences (NIGMS), which administers the PharmGKB grant. "It plays a critical role in moving us closer to the goal of personalized prescriptions, meaning each patient receives a safe and effective drug dose based on his or her individual characteristics."

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 NIH's 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, information that may help improve the safety and efficacy of medicines.

  • Analyze the genomes of additional individuals, including a family that has volunteered to be studied.

  • Develop guidelines for doctors about the use of genetic tests to customize dosages when prescribing certain medicines.

"PharmGKB has become a powerful resource not only by providing high-quality information, but also by bringing researchers together to share ideas and collaborate," said Rochelle M. Long, Ph.D., who directs pharmacogenomics research programs at NIGMS. "We anticipate that such collaborations will continue to grow for the next five years."

PharmGKB is part of a broader NIH pharmacogenomics initiative that includes individual research projects and a nationwide research consortium, the NIH Pharmacogenomics Research Network (PGRN). New PGRN grants are also being announced at this time.


Contact: Alisa Zapp Machalek
NIH/National Institute of General Medical Sciences

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