将基因组新生儿筛查作为一种有效的公共卫生干预措施来实施：避开炒作与批评。
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism.
作者信息
Friedman Jan M
机构信息
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
出版信息
NPJ Genom Med. 2024 Dec 19;9(1):70. doi: 10.1038/s41525-024-00451-7.
Abstract
Genome-wide sequencing of the DNA that can be obtained from a newborn screening blood spot could provide predictions of thousands of genetic diseases that are not currently included in universal newborn screening. Most of the serious ethical, legal, privacy, and social concerns raised by genome sequencing of all infants can be avoided by implementing genomic newborn screening in accordance with widely-accepted public health criteria.
摘要
从新生儿筛查血斑中获取的DNA进行全基因组测序，可以预测数千种目前未纳入普遍新生儿筛查的遗传疾病。通过按照广泛接受的公共卫生标准实施基因组新生儿筛查，可以避免对所有婴儿进行基因组测序所引发的大多数严重伦理、法律、隐私和社会问题。
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