Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.
Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation.
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DOI：
10.3390/ijns9030036
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发表时间：
2023-06-27
影响因子：
3.5
通讯作者：
中科院分区：
文献类型：
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作者：
基因组测序为检测与罕见孟德尔疾病有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，还有许多挑战需要克服。基于年龄的基因组筛查（ABGS）方法是出生时基因组规模测序的一种新颖替代方案，旨在在孩子的常规医疗保健过程中向父母提供高度可操作的遗传信息。 ABGS 利用既定指标来识别具有高临床可操作性的病症，并结合发病年龄和干预年龄的信息来确定筛查任何给定病症的最佳时间。与家长和提供者的持续合作有助于共同创造教育资源和战略，以解决潜在的实施障碍。实施科学框架和信息丰富的经验数据用于评估建立靶向基因组测序这种独特的临床应用的策略。最终，在初级保健儿科诊所进行的试点项目将评估患者和实施结果、家长和提供者的观点以及 ABGS 的可行性。一个经过验证、利益相关者知情且实用的 ABGS 计划将包括数百种在婴儿期和儿童期可采取行动的条件，为可评估临床和健康经济结果的纵向实施奠定了基础。
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.
DOI：
10.1038/s41431-020-0657-1
发表时间：
2020-10
期刊：
European journal of human genetics : EJHG
影响因子：
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作者：
Henderson GE;Ewing M;Kuczynski KJ;Cadigan RJ;Waltz M;Butterfield RM;Rini C;Weck K;Berg JS;Edwards TP
通讯作者：
Edwards TP