Subasri Mathushan, Cressman Celine, Arje Danielle, Schreyer Leighton, Cooper Erin, Patel Komal, Ungar Wendy J, Barwick Melanie, Denburg Avram, Hayeems Robin Z
Child Health Evaluative Sciences Program, The Hospital for Sick Children Research Institute, Toronto, ON M5G 1X8, Canada.
Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Children (Basel). 2023 May 17;10(5):897. doi: 10.3390/children10050897.
Precision health aims to personalize treatment and prevention strategies based on individual genetic differences. While it has significantly improved healthcare for specific patient groups, broader translation faces challenges with evidence development, evidence appraisal, and implementation. These challenges are compounded in child health as existing methods fail to incorporate the physiology and socio-biology unique to childhood. This scoping review synthesizes the existing literature on evidence development, appraisal, prioritization, and implementation of precision child health. PubMed, Scopus, Web of Science, and Embase were searched. The included articles were related to pediatrics, precision health, and the translational pathway. Articles were excluded if they were too narrow in scope. In total, 74 articles identified challenges and solutions for putting pediatric precision health interventions into practice. The literature reinforced the unique attributes of children and their implications for study design and identified major themes for the value assessment of precision health interventions for children, including clinical benefit, cost-effectiveness, stakeholder values and preferences, and ethics and equity. Tackling these identified challenges will require developing international data networks and guidelines, re-thinking methods for value assessment, and broadening stakeholder support for the effective implementation of precision health within healthcare organizations. This research was funded by the SickKids Precision Child Health Catalyst Grant.
精准医疗旨在根据个体基因差异制定个性化的治疗和预防策略。虽然它显著改善了特定患者群体的医疗保健状况,但更广泛的转化面临着证据开发、证据评估和实施方面的挑战。在儿童健康领域,这些挑战更加复杂,因为现有方法未能纳入儿童特有的生理学和社会生物学因素。本综述综合了关于精准儿童健康证据开发、评估、优先级确定和实施的现有文献。检索了PubMed、Scopus、Web of Science和Embase数据库。纳入的文章与儿科学、精准医疗和转化途径相关。范围过窄的文章被排除。总共74篇文章确定了将儿科精准医疗干预措施付诸实践的挑战和解决方案。文献强调了儿童的独特属性及其对研究设计的影响,并确定了儿童精准医疗干预措施价值评估的主要主题,包括临床益处、成本效益、利益相关者的价值观和偏好,以及伦理和公平性。应对这些已确定的挑战需要建立国际数据网络和指南,重新思考价值评估方法,并扩大利益相关者对在医疗组织内有效实施精准医疗的支持。本研究由 SickKids 精准儿童健康催化基金资助。