IMPLEMENTING PHARMACOGENETICS IN CLINICAL PRACTICE

St. Jude Children’s Research Hospital, in association with the Pharmacogenomics of Anticancer Agents Research 4Kids program under the Pharmacogenomics Research Network (PGRN) at the NIH, has been using well-known genetic polymorphisms to adjust drug therapy in patients in real time. St. Jude has the advantage of being able to overcome (or ignore) many obstacles to preemptive genotyping, said Mary Relling of St. Jude. The hospital covers all patient care costs and provides all medications for 5,000 unique, high-risk patients per year, 80 percent of whom have cancer and 20 percent of whom have sickle cell disease, HIV infection, or other life-threatening diseases. St. Jude has a collaborative approach to patient care, in which pharmacists are integrated into the team that delivers care and are responsible for signing off on every consult associated with a pharmacogenetic test result. St. Jude also maintains comprehensive EMRs that fully integrate every aspect of outpatient and inpatient care, which Relling said was a large motivating factor for St. Jude to incorporate genetic testing into the patient record.

For pharmacogenomic testing, St. Jude is now using the Affymetrix DMET-plus array, which tests for more than 1,900 polymorphisms in 225 genes that are likely to be important for pharmacogenetics. Previously it had been screening for only two of the genes included on that panel and doing so at a higher cost. The medical staff would rather not have the medical record populated with genomic information of uncertain clinical utility, Relling said. As a result, the hospital obtains consent from patients to withhold results that are not clinically interpretable, though it also discusses with patients the possibility that these findings may in the future have implications for disease risk.

A new program known as PG4KDS has the goal of migrating a larger number of pharmacogenetic tests from the laboratory into routine patient care so that results are available for preemptive use. The primary program objective is to estimate the proportion of patients who have high-risk or actionable pharmacogenetic results entered in their EMR with decision support (automated information alerts generated to assist health care providers in making decisions about a patient’s care). The secondary objectives are to use systematic procedures for prioritizing and migrating pharmacogenomic test results to the EMR, to incorporate clinical decision-support tools linking test results to medication use, and to assess the attitudes and concerns of research participants and clinicians.

An educational video made with the hospital’s Family Advisory Council is available to provide information for families. Information is also available on the program’s website (www.stjude.org/pg4kds) which lists which



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