Milko Laura V, Berg Jonathan S
Department of Genetics, University of North Carolina at Chapel Hill, 120 Mason Farm Rd., Chapel Hill, NC 27599-7264, USA.
Int J Neonatal Screen. 2023 Jun 27;9(3):36. doi: 10.3390/ijns9030036.
Genomic sequencing offers an unprecedented opportunity to detect inherited variants that are implicated in rare Mendelian disorders, yet there are many challenges to overcome before this technology can routinely be applied in the healthy population. The age-based genomic screening (ABGS) approach is a novel alternative to genome-scale sequencing at birth that aims to provide highly actionable genetic information to parents over the course of their child's routine health care. ABGS utilizes an established metric to identify conditions with high clinical actionability and incorporates information about the age of onset and age of intervention to determine the optimal time to screen for any given condition. Ongoing partnerships with parents and providers are instrumental to the co-creation of educational resources and strategies to address potential implementation barriers. Implementation science frameworks and informative empirical data are used to evaluate strategies to establish this unique clinical application of targeted genomic sequencing. Ultimately, a pilot project conducted in primary care pediatrics clinics will assess patient and implementation outcomes, parent and provider perspectives, and the feasibility of ABGS. A validated, stakeholder-informed, and practical ABGS program will include hundreds of conditions that are actionable during infancy and childhood, setting the stage for a longitudinal implementation that can assess clinical and health economic outcomes.
基因组测序为检测与罕见孟德尔疾病相关的遗传变异提供了前所未有的机会，但在这项技术能够常规应用于健康人群之前，仍有许多挑战需要克服。基于年龄的基因组筛查（ABGS）方法是一种在出生时进行全基因组测序的新颖替代方法，旨在在孩子的常规医疗保健过程中为父母提供具有高度可操作性的遗传信息。ABGS利用一种既定的指标来识别具有高临床可操作性的疾病，并纳入发病年龄和干预年龄的信息，以确定筛查任何特定疾病的最佳时间。与父母和医疗服务提供者的持续合作对于共同创建教育资源和应对潜在实施障碍的策略至关重要。实施科学框架和信息丰富的实证数据用于评估建立这种靶向基因组测序独特临床应用的策略。最终，在初级保健儿科诊所进行的一个试点项目将评估患者和实施结果、父母和医疗服务提供者的观点以及ABGS的可行性。一个经过验证、利益相关者知情且实用的ABGS项目将包括数百种在婴儿期和儿童期可采取行动的疾病，为能够评估临床和健康经济结果的纵向实施奠定基础。
