PO.CL07.01 · 临床研究
在一家三级医疗儿童医院建立精准治疗项目
Building a Precision Therapeutics program at a tertiary care Children's Hospital
作者与单位 Authors & Affiliations
摘要 Abstract
中文摘要
背景：在基因组学、药物基因组学和多组学数据整合进展的推动下，儿科医学正从基于人群的方法转向精准医学。儿童受遗传性和罕见疾病的影响尤为严重，将从个体化诊断和靶向治疗中显著获益。库克儿童医疗保健系统（CCHCS）启动了精准治疗项目，以统一并推进在肿瘤基因组学、药物基因组学、遗传学、研究和教育方面的工作，建立了一个可扩展的儿科精准医疗模式。
目的：开发并评估一个综合性、跨学科的精准医学基础架构，整合分子诊断、临床医疗、研究和教育，并在儿科肿瘤学和罕见病管理方面取得可衡量的成果。
方法：CCHCS实施了一个基于四大支柱构建的统一精准医学模式：肿瘤靶向治疗、药物基因组学、临床遗传学/遗传肿瘤学以及研究-教育基础架构。由医师科学家、药师、遗传学家和信息学家领导的多学科团队在各医院科室间协调工作。该模式包括分子肿瘤委员会讨论、精准医学门诊、嵌入电子病历的药物基因组学会诊以及遗传肿瘤学监测。利用率、整合度和教育覆盖面均得到前瞻性追踪。
结果：自2019年以来，分子肿瘤委员会已审查了超过150例儿科肿瘤病例，提供可操作的治疗方案，并通过协调的药物监督实现成本节约。精准医学门诊将靶向和研究性治疗扩展至非肿瘤性疾病，改善了患者的可及性。药物基因组学服务在15个月内完全整合入Epic系统，完成了超过100次会诊，满意度高，并配有自动化决策支持。遗传肿瘤学门诊识别出54例患有遗传性癌症综合征的患者，实现了早期检测和家族级联检测。全院范围的教育——包括每月获认证的会议、学生参与和公众参与——进一步促进了采纳。
结论：CCHCS精准治疗项目表明，对基因组学、药物基因组学和信息学进行结构化、多学科整合在儿科医疗中是可行且具有变革性的。该模式强调协作、教育和患者伙伴关系，为其他寻求实施可持续精准医学生态系统的机构提供了可复制的框架。持续的创新、研究协同和家庭参与对于将精准医疗扩展至各儿科专科将至关重要。
查看英文原文 English abstract
Background: Pediatric medicine is shifting from population-based approaches to precision medicine, fueled by advances in genomics, pharmacogenomics, and multi-omic data integration. Children, who are disproportionately affected by genetic and rare diseases, stand to benefit significantly from individualized diagnostics and targeted therapies. Cook Children's Health Care System (CCHCS) launched a Precision Therapeutics Program to unify and advance efforts in oncogenomics, pharmacogenomics, genetics, research, and education, establishing a scalable model for pediatric precision care.
Objective: To develop and evaluate a comprehensive, cross-disciplinary precision medicine infrastructure integrating molecular diagnostics, clinical care, research, and education, with measurable outcomes in pediatric oncology and rare disease management.
Methods: CCHCS implemented a unified precision medicine model built on four pillars: oncology-targeted therapeutics, pharmacogenomics, clinical genetics/genetic oncology, and research-education infrastructure. Multidisciplinary teams-led by physician-scientists, pharmacists, geneticists, and informaticians-coordinated efforts across hospital departments. The model included molecular tumor board discussions, precision medicine clinics, pharmacogenomic consultations embedded in the electronic medical record, and genetic oncology surveillance. Utilization, integration, and educational reach were prospectively tracked.
Results: Since 2019, the Molecular Tumor Board has reviewed over 150 pediatric oncology cases, delivering actionable therapies and achieving cost savings through coordinated pharmaceutical oversight. The Precision Medicine Clinic extended targeted and investigational therapies to non-oncologic conditions, improving patient access. Pharmacogenomics services were fully integrated into Epic within 15 months, completing over 100 consultations with high satisfaction and automated decision support. The Genetic Oncology Clinic identified 54 patients with heritable cancer syndromes, enabling early detection and familial cascade testing. Institution-wide education-including monthly accredited conferences, student involvement, and public engagement-further promoted adoption.
Conclusion: The CCHCS Precision Therapeutics Program demonstrates that structured, multidisciplinary integration of genomics, pharmacogenomics, and informatics is feasible and transformative in pediatric care. The model highlights collaboration, education, and patient partnership, offering a replicable framework for other institutions seeking to implement sustainable precision medicine ecosystems. Ongoing innovation, research alignment, and family engagement will be crucial for expanding precision care across pediatric specialties.
利益披露 Disclosure
A. Ray, None..
L. Hamilton, None..
D. Carrasco, None..
K. Smith, None..
A. Anthony, None..
A. Dominguez, None..
M. Gibbs, None..
D. Miller, None..
H. Trinkman, None.