Case Study by Patricia Porter-gill , BS 1 ; Pritmohinder Gill , PhD 1 ; bradley schaefer , MD 1 , 3 ; G . Bradley Schaefer , MD 4 ; judy allen , RN 1 ; Bobby l . boyanton , jr , MD 2 , 3 ; feliciano yu , jr ., MD 3
Arkansas Physicians ’ Interests and Learning Opportunities with Pharmacogenomics
Abstract
A clinical pharmacogenomics ( PGx ) program was established at Arkansas Children ’ s Hospital ( ACH ) to deliver genomic-guided therapeutic care to children . ACH physicians order the PGx test via the electronic health record ( EHR ) and are supported by automated clinical decision support about each patient ’ s genomic indicators . A survey was conducted before the program launched to understand clinician concerns , needs , knowledge , and familiarity with PGx . Results demonstrate that physicians are eager to learn about PGx and are most interested in the cost and efficacy of the PGx test .
Overview of Pharmacogenomics
Pharmacogenomics is a field of study incorporating pharmacology and genomics to determine how genetic composition impacts an individual ’ s response to medications . 1 , 2 It is imperative for one ’ s body to appropriately metabolize medications and have them delivered to the intended site of action within the body . This complex process takes place in multiple ways by impacting pharmacodynamics and pharmacokinetics of a drug , facilitated by drug metabolizing enzymes , drug receptors , and uptake transporters . In some cases , and in various ethnic groups , one ’ s genetic composition predisposes the body to inappropriately interact with the drug , leading to an adverse drug reaction ( ADR ). In fact , ADRs cause over 131,000 deaths per year in the U . S ., with an associated economic burden of $ 136 billion . 3 Currently , many medications are prescribed as “ one size fits all ;” however , they do not work the same way for every individual . The aim of PGx is to understand why individuals respond to medications differently . Presently , over 260 drugs need biomarker regulations to guide drug dosing . 4 , 5 PGx testing can improve health care by allowing physicians to know ahead of time how a patient will respond to a specific drug based on the patient ’ s genetic predisposition .
ACH is among the largest pediatric hospitals in the U . S . and the only academic hospital system in the state solely dedicated to caring for children . ACH implemented a pediatric PGx panel test that covered the most commonly prescribed medications and was coupled with pediatric clinical guidelines to improve patient care . These commonly prescribed medications cover a number of medical specialties including anesthesia , cancer , cardiology , gastrointestinal , gauche disease , hematology , infectious diseases , neurology , pain , psychiatry and addiction , and transplantation . The test is performed in-house with approximately a five-toseven-day turnaround time to facilitate timely decision making . .
PGx Workflow
A comprehensive PGx panel was deployed at ACH and consisted of 175 single nucleotide polymorphisms ( SNPs ) targeting 23 clinically actionable genes and genetic variants . The EHR orderable test provides clinical guidance on 57 prescription drugs commonly prescribed at ACH . DNA is obtained from blood or buccal swab material and analyzed in the ACH molecular genetic pathology laboratory by real-time polymerase chain reaction ( PCR ). The generated genotyping data is electronically sent to Translational Software Inc . ( Bellevue , WA ), who uses a proprietary software algorithm to determine the diplotype for each gene along with peer-reviewed , pediatric-specific , evidence-based gene-drug clinical guidance based upon Clinical Pharmacogenetics Implementation Consortium ( CPIC ) and Federal Drug Administration ( FDA )
1
Arkansas Children ’ s Research Institute , Little Rock , Ark .
2
Arkansas Children ’ s Hospital , Little Rock , Ark .
3
Department of Pediatrics , University of Arkansas for Medical Sciences , Little Rock , Ark .
4
Arkansas Children ’ s Hospital NW , Springdale , Ark .
guidelines .
Survey
Study data was collected and managed using Research Electronic Data Capture ( REDCap ) hosted by ACH and administered by the Arkansas Children ’ s Research Institute ( ACRI ). 6 , 7 REDCap is a secure , web-based software platform designed to support data capture for research studies , providing : 1 ) an intuitive interface for validated data entry ; 2 ) audit trails for tracking data manipulation and export procedures ; 3 ) automated export procedures for seamless data downloads to common statistical packages ; and 4 ) procedures for importing data from external sources .
The PGx survey was distributed to 1,122 clinicians and prescribing professionals practicing at ACH . The content of the survey was exported from the REDCap data .
The survey consisted of 17 questions , with many of these inquires derived from a nationwide survey done by Medco Health Solutions , Inc ., in conjunction with the American Medical Association , dealing with a physician ’ s knowledge of pharmacogenomics . 8
Survey Demographics
Out of the 131 responses to the survey , 114 were MD , six DO , one PhD , two PA , and one APN . Of the 114 MD , 35 were residents . The other seven individuals preferred not to respond with contact information . Twelve departments were represented by the survey including hematology / oncology , nephrology , emergency medicine , cardiology , and hospital medicine ( Figures 1 and 2 ).
30 • The Journal of the Arkansas Medical Society www . ArkMed . org