Gill Pritmohinder S, Elchynski Amanda L, Porter-Gill Patricia A, Goodson Bradley G, Scott Mary Ann, Lipinski Damon, Seay Amy, Kehn Christina, Balmakund Tonya, Schaefer G Bradley
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
Arkansas Children's Research Institute, Little Rock, AR 72202, USA.
J Pers Med. 2022 Apr 8;12(4):599. doi: 10.3390/jpm12040599.
Neurodevelopmental disorders have steadily increased in incidence in the United States. Over the past decade, there have been significant changes in clinical diagnoses and treatments some of which are due to the increasing adoption of pharmacogenomics (PGx) by clinicians. In this pilot study, a multidisciplinary team at the Arkansas Children's Hospital North West consulted on 27 patients referred for difficult-to-manage neurodevelopmental and/or neurobehavioral disorders. The 27 patients were evaluated by the team using records review, team discussion, and pharmacogenetic testing. OneOme RightMed (Minneapolis, MN, USA) and the Arkansas Children's Hospital comprehensive PGx test were used for drug prescribing guidance. Of the 27 patients' predicted phenotypes, the normal metabolizer was 11 (40.8%) for CYP2C19 and 16 (59.3%) for CYP2D6. For the neurodevelopmental disorders, the most common comorbid conditions included attention-deficit hyperactivity disorder (66.7%), anxiety disorder (59.3%), and autism (40.7%). Following the team assessment and PGx testing, 66.7% of the patients had actionable medication recommendations. This included continuing current therapy, suggesting an appropriate alternative medication, starting a new therapy, or adding adjunct therapy (based on their current medication use). Moreover, 25.9% of patients phenoconverted to a CYP2D6 poor metabolizer. This retrospective chart review pilot study highlights the value of a multidisciplinary treatment approach to deliver precision healthcare by improving physician clinical decisions and potentially impacting patient outcomes. It also shows the feasibility to implement PGx testing in neurodevelopmental/neurobehavioral disorders.
在美国,神经发育障碍的发病率一直在稳步上升。在过去十年中,临床诊断和治疗发生了重大变化,其中一些变化是由于临床医生越来越多地采用药物基因组学(PGx)。在这项试点研究中,阿肯色儿童医院西北分院的一个多学科团队对27名因难以管理的神经发育和/或神经行为障碍而转诊的患者进行了会诊。该团队通过病历审查、团队讨论和药物遗传学检测对这27名患者进行了评估。使用OneOme RightMed(美国明尼苏达州明尼阿波利斯)和阿肯色儿童医院综合PGx检测来指导药物处方。在这27名患者的预测表型中,CYP2C19的正常代谢者为11人(40.8%),CYP2D6的正常代谢者为16人(59.3%)。对于神经发育障碍,最常见的合并症包括注意力缺陷多动障碍(66.7%)、焦虑症(59.3%)和自闭症(40.7%)。经过团队评估和PGx检测后,66.7%的患者有可行的用药建议。这包括继续当前治疗、建议使用合适的替代药物、开始新的治疗或添加辅助治疗(基于他们目前的用药情况)。此外,25.9%的患者表型转化为CYP2D6慢代谢者。这项回顾性病历审查试点研究强调了多学科治疗方法通过改善医生临床决策并可能影响患者预后从而提供精准医疗的价值。它还显示了在神经发育/神经行为障碍中实施PGx检测的可行性。