Chan Mei-Yoke
Department of Paediatric Subspecialties, Paediatric Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore.
Centre for Biomedical Ethics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Asian Bioeth Rev. 2025 Mar 3;17(2):293-306. doi: 10.1007/s41649-024-00351-z. eCollection 2025 Apr.
Since the human genome was sequenced in 2003, exploding knowledge and new technologies in the field of genomics have given rise to the new field of precision medicine, whereby treatment is individualized to patients based on their genomic information. However, as with any new scientific advancement and technology, precision medicine has the potential to improve health outcomes but raises ethical questions, particularly in children. Using pediatric precision oncology as an example, this paper focuses on the ethical issues in the integration of genomic information in the management of children with cancer. Pediatric precision oncology encompasses the use of the child's cancer genomic information and sometimes germline genomic information to aid in diagnosis, risk stratification, and prognostication, as well as "precisely" treating the cancer using genomically guided targeted therapies. The main ethical issues discussed in this paper include the difficulty in obtaining informed consent from parents and assent from the child, due to information overload, emotional overwhelm, cognitive biases, among others; the ambiguity between research and clinical care, leading to therapeutic misconception and mis-estimation; the utility of this novel technology and its impact on scarce resources; and the potential to widen health disparities thus affecting justice. Recognizing and addressing these ethical challenges will help guide the responsible implementation and integration of precision medicine into routine pediatric clinical care.
自2003年人类基因组测序完成以来,基因组学领域知识的激增和新技术催生了精准医学这一新兴领域,即根据患者的基因组信息为其提供个性化治疗。然而,与任何新的科学进展和技术一样,精准医学有改善健康结果的潜力,但也引发了伦理问题,尤其是在儿童中。本文以儿科精准肿瘤学为例,重点探讨在儿童癌症管理中整合基因组信息时的伦理问题。儿科精准肿瘤学包括利用儿童癌症基因组信息,有时还包括生殖系基因组信息,以辅助诊断、风险分层和预后评估,以及使用基因组引导的靶向疗法 “精准” 治疗癌症。本文讨论的主要伦理问题包括:由于信息过载、情绪困扰、认知偏差等原因,难以获得家长的知情同意和儿童的同意;研究与临床护理之间的模糊性,导致治疗误解和错误估计;这项新技术的效用及其对稀缺资源的影响;以及扩大健康差距从而影响公平的可能性。认识并应对这些伦理挑战将有助于指导精准医学在儿科常规临床护理中的负责任实施和整合。