title: Development of a scalable pharmacogenomic clinical decision support service.
abstract: Advances in sequencing technology are making genomic data more accessible within the healthcare environment. Published pharmacogenetic guidelines attempt to provide a clinical context for specific genomic variants; however, the actual implementation to convert genomic data into a clinical report integrated within an electronic medical record system is a major challenge for any hospital. We created a two-part solution that integrates with the medical record system and converts genetic variant results into an interpreted clinical report based on published guidelines. We successfully developed a scalable infrastructure to support TPMT genetic testing and are currently testing approximately two individuals per week in our production version. We plan to release an online variant to clinical interpretation reporting system in order to facilitate translation of pharmacogenetic information into clinical practice.
authors.affiliation: Center for Biomedical Informatics, Harvard Medical School, Boston, MA; ; Gene Partnership, Boston Children's Hospital, Boston, MA.
authors.forename: Vincent A
authors.initials: VA
authors.lastname: Fusaro
authors.forename: Catherine
authors.initials: C
authors.lastname: Brownstein
authors.forename: Wendy
authors.initials: W
authors.lastname: Wolf
authors.forename: Catherine
authors.initials: C
authors.lastname: Clinton
authors.forename: Sarah
authors.initials: S
authors.lastname: Savage
authors.forename: Kenneth D
authors.initials: KD
authors.lastname: Mandl
authors.forename: David
authors.initials: D
authors.lastname: Margulies
authors.forename: Shannon
authors.initials: S
authors.lastname: Manzi