Ruskin Danielle, Szczech Klaudia, Scodellaro Sierra, Sun Naiyi, Cohn Iris
Department of Psychology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Department of Anesthesia and Pain Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Children (Basel). 2025 May 31;12(6):721. doi: 10.3390/children12060721.
Pharmacogenetic (PGx) testing can predict drug efficacy, toxicity, and risk of adverse drug reactions (ADRs). However, PGx-guided prescribing for pediatric chronic pain is underutilized. : We evaluated the rate of deviance from standard drug dosing regimens in children and adolescents with chronic pain based on PGx testing of drug-metabolizing genes. We also assessed the acceptability and feasibility of PGx testing and implementation of PGx-guided recommendations from patient, caregiver, and prescriber perspectives. Finally, we explored whether PGx results could predict self-reported therapeutic responses and/or ADRs to medications. : Forty-eight participants aged 8-17 years with chronic pain provided DNA via buccal swab. Genetic variant data for , , and metabolism genes and associated metabolizer status were analyzed with respect to clinical PGx guidelines for dosing recommendations of analgesics and psychotropic medications. Participants, their caregivers, and their prescribers also completed quantitative questionnaires evaluating their experience with PGx testing. Twenty-three (50%) participants were predicted to benefit from non-standard dosing for medications with clinical PGx guidelines. Participants expressed satisfaction with the PGx testing process and felt it was safe and worthwhile. Prescribers also reported that PGx results were relevant for medication choices in 42 (91%) participants. Seven (15%) participants had genotyping results which may have predicted their self-reported therapeutic responses and/or ADRs to specific medications. : Though further research on pharmacodynamic associations is required to sufficiently address the complexity of interpatient responses to medications for the treatment of pediatric pain and mental health conditions, PGx testing may be used to inform individualized medication choices based on genetic make-up.
药物遗传学（PGx）检测可以预测药物疗效、毒性以及药物不良反应（ADR）的风险。然而，PGx指导下的儿科慢性疼痛处方用药未得到充分利用。我们基于药物代谢基因的PGx检测，评估了慢性疼痛儿童和青少年偏离标准药物给药方案的比例。我们还从患者、护理人员和开处方者的角度评估了PGx检测的可接受性和可行性，以及实施PGx指导建议的情况。最后，我们探讨了PGx结果是否可以预测自我报告的治疗反应和/或药物不良反应。48名年龄在8至17岁的慢性疼痛参与者通过口腔拭子提供了DNA。根据镇痛药和精神药物给药建议的临床PGx指南，分析了细胞色素P450 2D6、2C**9和3A4代谢基因的基因变异数据以及相关的代谢状态。参与者、他们的护理人员和开处方者还完成了定量问卷，评估他们进行PGx检测的体验。根据临床PGx指南预测，23名（50%）参与者可从非标准药物给药中获益。参与者对PGx检测过程表示满意，并认为其安全且值得。开处方者也报告称，PGx结果与42名（91%）参与者的药物选择相关。7名（15%）参与者的基因分型结果可能预测了他们自我报告的对特定药物的治疗反应和/或药物不良反应。尽管需要对药效学关联进行进一步研究，以充分解决患者间对治疗儿科疼痛和心理健康状况药物反应的复杂性，但PGx检测可用于根据基因构成指导个体化药物选择。
