ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
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DOI：
10.1016/j.gim.2022.02.019
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发表时间：
2022-06
影响因子：
8.8
通讯作者：
Powell, Bradford C.
中科院分区：
文献类型：
--
作者：
Hunter, Jessica Ezzell;Jenkins, Charisma L.;Bulkley, Joanna E.;Gilmore, Marian J.;Lee, Kristy;Pak, Christine M.;Wallace, Kathleen E.;Buchanan, Adam H.;Foreman, Ann Katherine M.;Freed, Amanda S.;Goehringer, Scott;Manickam, Kandamurugu;Meeks, Naomi J. L.;Ramos, Erin M.;Shah, Neethu;Steiner, Robert D.;Subramanian, Sai Lakshmi;Trotter, Tracy;Webber, Elizabeth M.;Williams, Marc S.;Goddard, Katrina A. B.;Powell, Bradford C.
需要对基因组规模测序的次要结果的临床可行性进行证据的综合和管理，以支持报告这些结果的决策。为了评估儿童和青少年继发性结果的可行性，临床基因组资源（ClinGen）成立了儿科可行性工作组（儿科AWG）。儿科特设工作组修改了现有成人特设工作组的框架，其中包括基因和相关疾病的可行动性总结报告以及特定结局-干预对的可行动性共识评分。对儿科环境中成人框架的修改包括考虑在儿科环境中报告症状前或预测性遗传发现的特殊考虑，例如通过不披露成年前不可采取行动的条件来保持未来的自主性。儿科特设工作组随后将这一新的框架应用于具有推定作用性的基因和相关条件。截至2021年9月，儿科AWG将新框架应用于代表143个基因的70个可操作性主题。报告和评分可在www.clinicalgenome.org上公开获取。儿科AWG继续策划基因状况主题，并建立基于证据的资源，支持临床社区和决策者制定关于儿科人群中次要结果返回的政策。
Synthesis and curation of evidence regarding the clinical actionability of secondary findings from genome-scale sequencing are needed to support decision-making on reporting of these findings. To assess actionability of secondary findings in children and adolescents, the Clinical Genome Resource (ClinGen) established the Pediatric Actionability Working Group (Pediatric AWG). The Pediatric AWG modified the framework of the existing Adult AWG, which included production of summary reports of actionability for genes and associated conditions and consensus actionability scores for specific outcome-intervention pairs. Modification of the adult framework for the pediatric setting included accounting for special considerations for reporting presymptomatic or predictive genetic findings in the pediatric context, such as maintaining future autonomy by not disclosing conditions not actionable until adulthood. The Pediatric AWG then applied this new framework to genes and associated conditions with putative actionability. As of September 2021, the Pediatric AWG applied the new framework to 70 actionability topics representing 143 genes. Reports and scores are publicly available at www.clinicalgenome.org. The Pediatric AWG continues to curate gene-condition topics and build an evidence-based resource supporting clinical communities and decision makers with policy development on the return of secondary findings in pediatric populations.
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
5.2
作者：
Haer-Wigman, Lonneke;van der Schoot, Vyne;Yntema, Helger G.
通讯作者：
Yntema, Helger G.
影响因子：
1.9
作者：
Fenwick A;Plantinga M;Dheensa S;Lucassen A
通讯作者：
Lucassen A
影响因子：
3.3
作者：
Davis, DS
通讯作者：
Davis, DS
影响因子：
8.8
作者：
Kalia, Sarah S.;Adelman, Kathy;Miller, David T.
通讯作者：
Miller, David T.