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Dublin Core
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Title
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August 2021 List
Text
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Citation List Month
August 2021 List
URL Address
<a href="http://doi.org/10.1001/jamanetworkopen.2021.10446" target="_blank" rel="noreferrer noopener">http://doi.org/10.1001/jamanetworkopen.2021.10446</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting
Publisher
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JAMA Network Open
Date
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2021
Subject
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pediatric; children with medical complexity; pharmacogenomic testing; pharmacogenes
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Cohn I; Manshaei R; Liston E; Okello JBA; Khan R; Curtis MR; Krupski AJ; Jobling RK; Kalbfleisch K; Paton TA; Reuter MS; Hayeems RZ; Verstegen RHJ; Goldman A; Kim RH; Ito S
Description
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Pharmacogenomic (PGx) testing provides preemptive pharmacotherapeutic guidance regarding the lack of therapeutic benefit or adverse drug reactions of PGx targeted drugs. Pharmacogenomic information is of particular value among children with complex medical conditions who receive multiple medications and are at higher risk of developing adverse drug reactions.To assess the implementation outcomes of a PGx testing program comprising both a point-of-care model that examined targeted drugs and a preemptive model informed by whole-genome sequencing that evaluated a broad range of drugs for potential therapy among children in a pediatric tertiary care setting.This cohort study was conducted at The Hospital for Sick Children in Toronto, Ontario, from January 2017 to September 2020. Pharmacogenomic analyses were performed among 172 children who were categorized into 2 groups: a point-of-care cohort and a preemptive cohort. The point-of-care cohort comprised 57 patients referred to the consultation clinic for planned therapy with PGx targeted drugs and/or for adverse drug reactions, including lack of therapeutic benefit, after the receipt of current or past medications. The preemptive cohort comprised 115 patients who received exploratory whole-genome sequencing–guided PGx testing for their heart conditions from the cardiac genome clinic at the Ted Rogers Centre for Heart Research.Patients received PGx analysis of whole-genome sequencing data and/or multiplex genotyping of 6 pharmacogenes (CYP2C19, CYP2C9, CYP2D6, CYP3A5, VKORC1, and TPMT) that have established PGx clinical guidelines.The number of patients for whom PGx test results warranted deviation from standard dosing regimens.A total of 172 children (mean [SD] age, 8.5 [5.6] years; 108 boys [62.8%]) were enrolled in the study. In the point-of-care cohort, a median of 2 target genes (range, 1-5 genes) were investigated per individual, with CYP2C19 being the most frequently examined; genotypes in 21 of 57 children (36.8%) were incompatible with standard treatment regimens. As expected from population allelic frequencies, among the 115 children in the whole-genome sequencing–guided preemptive cohort, 92 children (80.0%) were recommended to receive nonstandard treatment regimens for potential drug therapies based on their 6-gene pharmacogenetic profile.In this cohort study, among both the point-of-care and preemptive cohorts, the multiplex PGx testing program provided dosing recommendations that deviated from standard regimens at an overall rate that was similar to the population frequencies of relevant variants.
Identifier
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<a href="http://doi.org/10.1001/jamanetworkopen.2021.10446" target="_blank" rel="noreferrer noopener">10.1001/jamanetworkopen.2021.10446</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2021
August 2021 List
Children With Medical Complexity
Cohn I
Curtis MR
Goldman A
Hayeems RZ
Ito S
JAMA Network Open
Jobling RK
Kalbfleisch K
Khan R
Kim RH
Krupski AJ
Liston E
Manshaei R
Okello JBA
Paton TA
Pediatric
pharmacogenes
pharmacogenomic testing
Reuter MS
Verstegen RHJ