筛查和评估可治疗遗传性疾病的最佳时机是什么时候?:寿命视角

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
Melissa A. Parisi, Michele Caggana, Jennifer L. Cohen, Nina B. Gold, Jill A. Morris, Joseph J. Orsini, Tiina K. Urv, Melissa P. Wasserstein
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引用次数: 2

摘要

这篇论文的重点是“什么时候是识别一个有可能患上可治疗遗传疾病的人的最佳时机?”在这篇综述中,我们描述了一个框架,用于考虑最佳时机,结合寿命方法对可治疗遗传病进行基因和基因组筛查。利用旋转木马的概念,我们描述了产前、新生儿期、儿童期和成年期的基因检测,旋转木马代表了一个人一生中可能围绕基因诊断做出关键决定的四个广泛时间段。对于每一个时期,我们都描述了基因检测的目标、筛查或检测的现状、基因组检测未来的近期愿景、每种方法的优缺点,以及检测和治疗的可行性和伦理考虑。“基因组学通行证”的概念是,可以通过公共卫生计划对每个人进行早期基因组筛查评估,这些数据最终成为一份“活文件”,可以在该人一生中的规定时间进行查询和/或重新分析,或者响应于对该个体的遗传疾病症状的担忧。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective

This paper focuses on the question of, “When is the best time to identify an individual at risk for a treatable genetic condition?” In this review, we describe a framework for considering the optimal timing for pursuing genetic and genomic screening for treatable genetic conditions incorporating a lifespan approach. Utilizing the concept of a carousel that represents the four broad time periods when critical decisions might be made around genetic diagnoses during a person's lifetime, we describe genetic testing during the prenatal period, the newborn period, childhood, and adulthood. For each of these periods, we describe the objectives of genetic testing, the current status of screening or testing, the near-term vision for the future of genomic testing, the advantages and disadvantages of each approach, and the feasibility and ethical considerations of testing and treating. The notion of a “Genomics Passbook” is one where an early genomic screening evaluation could be performed on each individual through a public health program, with that data ultimately serving as a “living document” that could be queried and/or reanalyzed at prescribed times during the lifetime of that person, or in response to concerns about symptoms of a genetic disorder in that individual.

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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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