意义不明的变异基因的意义:遗传不确定性的人类代价》。

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
Damla Gonullu-Rotman
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引用次数: 0

摘要

这篇报道讲述了玛丽亚(为保护家庭隐私,母亲的姓名有改动)的心路历程。她是一位新手母亲,尽管在近亲结婚中接受了积极的基因携带者筛查,但她的新生儿还是被意外诊断为超长链酰基-CoA 脱氢酶(VLCAD)缺乏症。在这个案例中,基因数据库未能检测出玛丽亚及其丈夫的致病变体,这凸显了基因数据库缺乏多样性所带来的情感和系统性挑战。玛丽亚的故事揭示了被掩盖的不确定意义变异体(VUS)需要向训练有素的遗传学专家咨询的情况,并强调了建立一个更加公平的医疗保健系统的迫切需要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Significance of Variants of Uncertain Significance: The Human Cost of Genetic Uncertainty.

This piece narrates the journey of Maria (name of the mother has been altered to protect the family's privacy), a new mother confronting her newborn's unexpected diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, despite undergoing proactive genetic carrier screening within a consanguineous marriage. It highlights the emotional and systemic challenges arising from the lack of diversity in genetic databases, which, in this case, failed to detect pathogenic variants in Maria and her husband. Maria's story sheds light on situations where a masked variant of uncertain significance (VUS) necessitates consultation with a trained genetics specialist and underscores the urgent need for a more equitable healthcare system.

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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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