Pharmacogenomic testing has utility in determining medication efficacy


For children who require a number of medications, pharmacogenomic testing can be an effective way to determine whether standard medication regimens will be effective.

With children who require a number of medications, such as those with chronic conditions, tracking the safety and efficacy of those medications can be important to reduce the risk of adverse drug reactions. Using pharmacogenomic testing could help assess potential responses to drugs. An investigation in JAMA Network Open offers insight into the clinical utility of using such testing.1

Investigators ran the study at The Hospital for Sick Children in Toronto, Ontario, Canada, from January 2017 to September 2020. The pharmacogenomics analyses were run on children who had been categorized into 2 groups: a point-of-care cohort, which included children referred to the consultation clinic for planned therapy with pharmacogenomic targeted drugs, and a preemptive cohort, which included children who got exploratory whole-genome sequencing–guided pharmacogenomic testing for their heart conditions. The analyses looked at the 6 pharmacogenes (CYP2C19, CYP2C9, CYP2D6, CYP3A5, VKORC1, and TPMT) that have established clinical guidelines.

There were 172 children enrolled in the study with 57 in the point-of-care cohort and 115 in the preemptive cohort. For the point-of-care cohort, there was a median of 2 target genes that were investigated per child and CYP2C19 was the most often examined. The genotypes of 21 children in the cohort were found to not be compatible with the standard treatment regimens. In the preemptive cohort, 92 of the 115 children were recommended to receive a nonstandard regimen for drug therapies due to the findings of the 6-gene pharmacogenetic profile.

The investigators concluded that having a profile of the 6 pharmacogenes as well as implementing a pharmacogenomic program has a clinical benefit for children who require certain medication. They also believe that the findings could be of use to the effort to advance the use and understanding of pharmacogenomic data in routine pediatric care.


1. Cohn I, Manshaei R, Liston E, et al. Assessment of the implementation of pharmacogenomic testing in a pediatric tertiary care setting. JAMA Netw Open. 2021;4(5):e2110446. doi:10.1001/jamanetworkopen.2021.10446

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