Integrating pharmacogenetic information and clinical decision support into the electronic health record

Abstract

Pharmacogenetics (PG) examines gene variations for drug disposition, response, or toxicity. At the National Institutes of Health Clinical Center (NIH CC), a multidepartment Pharmacogenetics Testing Implementation Committee (PGTIC) was established to develop clinical decision support (CDS) algorithms for abacavir, carbamazepine, and allopurinol, medications for which human leukocyte antigen (HLA) variants predict severe hypersensitivity reactions. Providing PG CDS in the electronic health record (EHR) during order entry could prevent adverse drug events. Medical Logic Module (MLM) programming was used to implement PG CDS in our EHR. The MLM checks to see if an HLA sequence-based gene test is ordered. A message regarding test status (result present, absent, pending, or test not ordered) is displayed on the order form, and the MLM determines if the prescriber can place the order, place it but require an over-ride reason, or be blocked from placing the order. Since implementation, more than 725 medication orders have been placed for over 230 patients by 154 different prescribers for the three drugs included in our PG program. Prescribers commonly used an over-ride reason when placing the order mainly because patients had been receiving the drug without reaction before implementation of the CDS program. Successful incorporation of PG CDS into the NIH CC EHR required a coordinated, interdisciplinary effort to ensure smooth activation and a positive effect on patient care. Prescribers have adapted to using the CDS and have ordered PG testing as a direct result of the implementation.

Genetics, Genomics, and Pharmacogenomics

“…23 At this point, CDS is being done for us in a rudimentary way by the testing labs. A gene signature is scored as high risk by a computer, and we are told the patent's score is high as part of the laboratory report.…”

Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Health Record

“…Sites independent of eMERGE and CSER such as St. Jude Medical Center, 17,18 Harvard University, 19 the University of Chicago, 20 the University of Maryland, 21 and the NIH's care center have discussed similar ventures. 22 These publications rarely report outcomes for particular interventions, but share valuable institutional experiences in genome-EMR integration. Indeed, based on the recent genome-EMR publications, a generalized prototypic workflow tracing the steps from genetic test to EMR-based clinical application can be extrapolated and is described in Figure 1.…”

“…Goldspiel et al note such difficulties in their system when the naming for an allele changed from HLAB5701 to HLAB57:01. 22 Even such minor discrepancies can have major impacts on clinical computing systems. Complex and comprehensive lookup libraries correlating multiple genomic identifiers between multiple laboratory and EMR result fields may be required for effective genomic storage and reporting.…”

“…22 Their CDS system includes alerts that fire when a provider prescribes the HIV medication, abacavir, for a patient. Pre-test alerts inform the provider of the risk for hypersensitivity reactions among patients with HLAB5701 variants and recommend genetic testing prior to initiation of treatment.…”

“…Providers overrode 100% of their pre-test abacavir alerts. 22 The authors note that HLA testing is routine and that all of the patients had received the tests elsewhere or were already taking abacavir, thus making it reasonable for the providers to override. In this particular setting, using post-test alerts would likely prove more useful for the institution's providers and also reduce the total number of alerts to which they are subjected.…”