Changes in multi-gene cancer panels for children: A 4-year retrospective review

IF 1.9 4区医学 Q3 GENETICS & HEREDITY

Journal of Genetic Counseling Pub Date : 2025-06-26 DOI:10.1002/jgc4.70075

Elise G. Williams, Elena Kessler, Kristine L. Cooper, Andrea Durst, Julia Meade

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引用次数: 0

Abstract

The multi-gene panel is the most utilized genetic test to evaluate for germline cancer predisposition syndromes. However, the rate of change of commercial multigene panels is not well understood, and its value as a standalone test has also not been investigated. We conducted a retrospective chart review of the UPMC Children's Hospital of Pittsburgh Cancer Predisposition Program's genetic testing results to evaluate how multigene panels for pediatric and young adult patients with cancer have changed in size and scope from 2018 to 2022. We find that multigene panels show a trend of growing larger in number of genes included over time and explore the utility of additional genetic testing after the initial round of multi-gene panel testing. We demonstrate heterogeneity between commercial genetic testing laboratories and their panels over time, signifying a need for equity among genetic testing panels and vigilance among physicians and genetic counselors ordering panel-based testing.

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儿童多基因癌症小组的变化：一项4年回顾性审查

多基因面板是最常用的基因检测来评估生殖系癌症易感性综合征。然而，商业多基因面板的变化率尚不清楚，其作为独立测试的价值也未被调查。我们对匹兹堡UPMC儿童医院癌症易感项目的基因检测结果进行了回顾性图表回顾，以评估2018年至2022年儿科和年轻成人癌症患者的多基因面板在规模和范围上的变化。我们发现，随着时间的推移，多基因面板显示出基因数量不断增加的趋势，并探索了在首轮多基因面板测试后额外基因测试的效用。随着时间的推移，我们证明了商业基因检测实验室和他们的小组之间的异质性，这表明基因检测小组之间需要公平，医生和遗传咨询师需要警惕，以小组为基础的测试。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Genetic Counseling GENETICS & HEREDITY-

CiteScore

3.80

自引率

26.30%

发文量

113

审稿时长

6 months

期刊介绍： The Journal of Genetic Counseling (JOGC), published for the National Society of Genetic Counselors, is a timely, international forum addressing all aspects of the discipline and practice of genetic counseling. The journal focuses on the critical questions and problems that arise at the interface between rapidly advancing technological developments and the concerns of individuals and communities at genetic risk. The publication provides genetic counselors, other clinicians and health educators, laboratory geneticists, bioethicists, legal scholars, social scientists, and other researchers with a premier resource on genetic counseling topics in national, international, and cross-national contexts.