Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Wadsworth Center, New York State Department of Health, Division of Genetics, Albany, New York, USA.
Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):44-55. doi: 10.1002/ajmg.c.32036. Epub 2023 Mar 6.
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.
本文聚焦于“何时是识别有治疗性遗传疾病风险个体的最佳时机？”这一问题。在这篇综述中，我们描述了一个考虑最佳时机进行可治疗遗传疾病基因和基因组筛查的框架，该框架采用了一种寿命方法。我们利用代表个体一生中可能做出与遗传诊断相关的关键决策的四个广泛时间段的旋转木马概念，描述了产前、新生儿期、儿童期和成年期的基因检测。对于每个阶段，我们描述了基因检测的目标、当前的筛查或检测状况、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。“基因组存折”的概念是，通过公共卫生计划对每个人进行早期基因组筛查评估，这些数据最终将成为一份“活文档”，可以在那个人的一生中规定的时间查询和/或重新分析，或者在出现该个体遗传疾病症状的担忧时进行查询和/或重新分析。
