Seattle Children's Research Institute, Seattle, Washington.
Department of Pediatrics, University of Washington, Seattle, Washington.
Pediatrics. 2024 Apr 1;153(4). doi: 10.1542/peds.2023-062850.
Advances in genomic testing have been pivotal in moving childhood cancer care forward, with genomic testing now a standard diagnostic tool for many children, adolescents, and young adults with cancer. Beyond oncology, the role of genomic testing in pediatric research and clinical care is growing, including for children with developmental differences, cardiac abnormalities, and epilepsy. Despite more standard use in their patients, pediatricians have limited guidance on how to communicate this complex information or how to engage parents in decisions related to precision medicine. Drawing from empirical work in pediatric informed consent and existing models of shared decision-making, we use pediatric precision cancer medicine as a case study to propose a conceptual framework to approach communication and decision-making about genomic testing in pediatrics. The framework relies on identifying the type of genomic testing, its intended role, and its anticipated implications to inform the scope of information delivered and the parents' role in decision-making (leading to shared decision-making along a continuum from clinician-guided to parent-guided). This type of framework rests on practices known to be standard in other complex decision-making but also integrates unique features of genomic testing and precision medicine. With the increasing prominence of genomics and precision medicine in pediatrics, with our communication and decision-making framework, we aim to guide clinicians to better support their pediatric patients and their parents in making informed, goal-concordant decisions throughout their care trajectory.
基因组检测的进步在推动儿童癌症治疗方面发挥了关键作用,现在基因组检测已成为许多癌症儿童、青少年和年轻人的标准诊断工具。除了肿瘤学,基因组检测在儿科研究和临床护理中的作用也在不断扩大,包括用于有发育差异、心脏异常和癫痫的儿童。尽管儿科医生在他们的患者中更常使用基因组检测,但他们在如何传达这种复杂信息或如何让家长参与与精准医学相关的决策方面的指导有限。我们借鉴儿科知情同意的实证工作和现有的共享决策模型,以儿科精准癌症医学为例,提出了一个概念框架,以探讨儿科基因组检测的沟通和决策问题。该框架依赖于确定基因组检测的类型、其预期作用及其预期影响,以告知传递的信息范围和家长在决策中的作用(从临床医生指导到家长指导的连续统一体上实现共享决策)。这种类型的框架基于其他复杂决策中已知的标准实践,但也整合了基因组检测和精准医学的独特特征。随着基因组学和精准医学在儿科领域的地位日益突出,我们希望通过我们的沟通和决策框架,指导临床医生更好地支持他们的儿科患者及其家长,在整个治疗过程中做出知情、目标一致的决策。