Pharmacogenomic testing has utility in determining medication efficacy

In children who require a number of medications, such as children with chronic conditions, it may be important to monitor the safety and efficacy of those medications to reduce the risk of side effects. The use of pharmacogenomic testing can help assess potential drug responses. A study in JAMA Network Open provides insight into the clinical utility of using such tests

Researchers conducted the study at The Hospital for Sick Children in Toronto, Ontario, Canada, from January 2017 to September 2020. The pharmacogenomics analyzes were performed on children divided into 2 groups: a point-of-care cohort, which included referred children to the consultation clinic for planned therapy with pharmacogenomic targeted drugs, and a preventive cohort, including children who received exploratory pharmacogenomic tests with full genome sequencing for their heart conditions. The analyzes 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, of which 57 were in the point-of-care cohort and 115 in the preventive cohort. For the point-of-care cohort, there was a median of 2 target genes examined per child and CYP2C19 was the most frequently examined. The genotypes of 21 children in the cohort were found to be incompatible with the standard treatment regimens. In the preventive cohort, 92 of 115 children were recommended to receive a non-standard drug therapy regimen because of the findings of the pharmacogenetic profile with 6 genes.

The researchers concluded that having a profile of the 6 pharmacogenes and implementing a pharmacogenomic program has a clinical benefit for children who require certain medications. They also believe that the findings could be of benefit to efforts 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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