Whole-genome and whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. The term newborn screening refers to public health programs designed to screen newborns for various treatable metabolic conditions, by measuring levels of circulating blood metabolites. The availability and significant decrease in sequencing costs has raised the question of whether metabolic newborn screening should be replaced by whole-genome or whole-exome sequencing. While newborn genome sequencing can potentially increase the number of disorders identified by newborn screening, the generalization of its practice raises a number of important ethical issues. This short article argues that there are medical, psychological, ethical and economic reasons why widespread dissemination of newborn screening is still premature.

中文翻译：

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在新生儿筛查中使用下一代测序的挑战。

现在，用于临床应用的全基因组和全外显子组测序已成为医学遗传学实践不可或缺的一部分。术语新生儿筛查是指旨在通过测量循环血液代谢产物的水平来筛查新生儿是否患有各种可治疗的代谢状况的公共卫生计划。测序成本的可得性和显着降低提出了一个问题，即应采用全基因组测序还是全外显子测序代替代谢新生儿筛查。尽管新生儿基因组测序可能会增加通过新生儿筛查发现的疾病的数量，但其实践的普遍化提出了许多重要的伦理问题。这篇简短的文章认为，出于医学，心理，伦理和经济原因，新生儿筛查的广泛传播仍为时过早。