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Research Article: Translating Precision Health for Pediatrics: A Scoping Review

Date Published: 2023-05-17

Abstract:
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.

Introduction:
Advances in understanding the genetic basis of disease through sequencing technologies are refining diagnostic capabilities, enabling tailored surveillance, offering new therapeutic options, and optimizing treatment delivery. Understanding that different underlying genetic changes can cause the same disease means not all patients with the same problem will benefit from the same treatment. The field of precision health has emerged as part of this paradigm shift, where the integration of genomic technologies into…

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