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Jun 15, 2010 (Vol. 30, No. 12)

Pharmacogenomics on Its Way Toward Clinic

Technology Is Proving Its Worth in Assessment of Drug Efficacy, Toxicity, and Dosing

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    In 2007, Coriell established the Genotyping and Microarray Center. It performs genome analyses for the Coriell Personalized Medicine Collaborative™, which seeks to better understand the impact of genome-informed medicine and to guide its ethical, legal, and responsible implementation.

    With ongoing advances in genomic technologies, clinicians are eager to move personalized medicine from the realm of theory to practice. Investigating whether the technology is mature enough, and if so, how to implement it, has become a hot topic of discussion in the field of personalized medicine.

    Thus far, some of the most clinic-ready technology exists in the field of pharmacogenomics, where genes have been linked to drug efficacy, toxicity, and dosing. In addition to practical considerations regarding science and patient care, scientists are now tackling the thorny issues of policy and ethics.

    The “Personalized Medicine in the Clinic” meeting held recently at Arizona State University in Phoenix featured dual tracks for discussing both the science and policy implications of the latest pharmacogenomic advances.

    It’s an open question whether personalized medicine is mature enough to be of use in a real-world clinical setting. Some researchers are eager to begin using genomic data to predict patient risk, others doubt that it has practical utility yet. The Coriell Institute for Medical Research is seeking to answer this question in conjunction with the Coriell Personalized Medicine Collaborative (CPMC), a large, longitudinal study on the use of personal genome data in clinical patient care.

    Intended as a model for ethical implementation of personalized medicine, the CPMC will ultimately enroll 100,000 participants who will be able to receive information about their genetic risks and significant pharmacogenomic information. The project will also collect long-term data about patient health and behavior changes with respect to their specific genetic variant results.

    Michael Christman, Ph.D., president and CEO of Coriell, joined the institute in 2007 and initiated the CPMC. Of all of the types of personalized medicine data that will be screened, he has the highest expectations for pharmacogenomics. “You hear it debated whether or not personalized medicine is really ready for prime time yet. I think that, in the area of pharmacogenomics, it is.”

    As an example of the difference that good pharmacogenomic data can make, Dr. Christman cited Plavix, one of the best-selling prescription drugs for heart-related ailments. A simple genetic test shows that it doesn’t work in about one quarter of people taking it. Instead, those people have negative medical outcomes. With appropriate screening for this genetic variant, many people could be saved the time, expense, and negative effects of a therapy that is not appropriate for them.

    When this type of genetic mismatch with a drug is multiplied across the thousands of prescription drugs used in medicine, the costs are staggering. “We spend $300 billion a year on prescription drugs,” noted Dr. Christman. “About half of that is wasted, as most drugs only work in about half of the people who take them.”

    Dr. Christman emphasized the uniqueness of the CPMC research study at the meeting, including free participation and  genetic counseling; the establishment of  many hospital partners; and the inclusion of nongenetic risk factors in the risk results. Currently, 4,500 people are enrolled in the study.

    A committee reviews genetic information to confirm that it is actionable before it is reported to the participants. Participants can then choose what results they want to view and, further, what information to share with their physicians and decide whether to make any changes in lifestyle, behavior, or medication. A separate review board oversees pharmacogenomic information, to decide which gene-drug pairs are valid and actionable. “That’s where I think the largest clinical impact will be,” said Dr. Christman.

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