Curators' Favorite Papers

October’s edition of "Curators' Favorite Papers" features “Introducing personalized health for the family: the experience of a single hospital system”, a discussion about a preemptive pharmacogenomic (PGx) testing program in newborns at a Virginia hospital. The program, called MediMap Baby was initiated in 2014 with with the recruitment of participants from a longitudinal family-based whole genome sequence study at the Inova Translational Medicine Institute (ITMI). Initial efforts included the formation of small focus groups to gauge patient interest in the project. The MediMap project began implementation in 2016 where preemptive PGx testing was offered to all families of the newborns born at the hospital. 4,257 PGx tests were conducted at no additional cost and results were entered into the patient’s electronic health record. The program necessitated the training of a multidisciplinary staff and the development of patient educational materials. Genes assayed included TPMT, CYP2C9, VKORC1, CYP2C19, SLCO1B1, CYP2D6 and CYP3A5, which the authors describe as having potential utility for 24 prescription medications.

Dosing and prescribing guidelines involving these and other genes are available on PharmGKB and CPIC.