Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.
This paper outlines the implementation of a comprehensive clinical pharmacogenomics (PGx) service within a pediatric teaching hospital and the integration of clinical decision support in the electronic health record (EHR).



An approach to clinical decision support for medication ordering and dispensing driven by documented PGx variant status in an EHR is described. A web-based platform was created to automatically generate a clinical report from either raw assay results or specified diplotypes, able to parse and combine haplotypes into an interpretation for each individual and compared to the reference lab call for accuracy.



Clinical decision support rules built within an EHR provided guidance to providers for 31 patients (100%) who had actionable PGx variants and were written for interacting medications. A breakdown of the PGx alerts by practitioner service, and alert response for the initial cohort of patients tested is described. In 90% (355/394) of the cases, thiopurine methyltranferase genotyping was ordered pre-emptively.



This paper outlines one approach to implementing a clinical PGx service in a pediatric teaching hospital that cares for a heterogeneous patient population. There is a focus on incorporation of PGx clinical decision support rules and a program to standardize report text within the electronic health record with subsequent exploration of clinician behavior in response to the alerts.



The incorporation of PGx data at the time of prescribing and dispensing, if done correctly, has the potential to impact the incidence of adverse drug events, a significant cause of morbidity and mortality.
Clinical Pharmacogenomics Service, Boston Children's Hospital, Boston, MA, USA shannon.manzi@childrens.harvard.edu.
Shannon F
SF
Manzi
Clinical Pharmacogenomics Service, Boston Children's Hospital, Boston, MA, USA.|Comptational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA.
Vincent A
VA
Fusaro
Clinical Pharmacogenomics Service, Boston Children's Hospital, Boston, MA, USA.|Massachusetts College of Pharmacy and Allied Health Sciences University, Boston, MA, USA.
Laura
L
Chadwick
Clinical Pharmacogenomics Service, Boston Children's Hospital, Boston, MA, USA.
Catherine
C
Brownstein
Clinical Pharmacogenomics Service, Boston Children's Hospital, Boston, MA, USA.
Catherine
C
Clinton
Comptational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA.|Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
Kenneth D
KD
Mandl
Clinical Pharmacogenomics Service, Boston Children's Hospital, Boston, MA, USA.
Wendy A
WA
Wolf
Clinical Pharmacogenomics Service, Boston Children's Hospital, Boston, MA, USA.|Comptational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA.
Jared B
JB
Hawkins
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D020000:Decision Support Systems, Clinical; D004360:Drug Therapy, Computer-Assisted; D057286:Electronic Health Records / Q000458:organization & administration*; D005260:Female; D000073892:Health Information Interoperability; D006776:Hospitals, Pediatric; D006801:Humans; D007223:Infant; D008297:Male; D010597:Pharmacogenetics / Q000379:methods / Q000458:organization & administration*; D062606:Tertiary Care Centers
child; clinical; electronic medical record; genetics; pharmacogenomics