Potential Uses and Inherent Challenges of Using Genome-Scale Sequencing to Augment Current Newborn Screening

被引：33

作者：

Berg, Jonathan S. ^{[1
]}

Powell, Cynthia M. ^{[1
,2
]}

机构：

[1] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA

[2] Univ N Carolina, Dept Pediat, Chapel Hill, NC 27599 USA

来源：

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE | 2015年 / 5卷 / 12期

关键词：

TANDEM MASS-SPECTROMETRY; ADULT-ONSET DISEASES; INCIDENTAL FINDINGS; ETHICAL-ISSUES; CHILDREN; LEGAL; PHENYLKETONURIA; RECOMMENDATIONS; RESPONSIVENESS; DISORDERS;

D O I：

10.1101/cshperspect.a023150

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Since newborn screening (NBS) began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders. Recent developments now make it possible to sequence an infant's genome relatively quickly and economically. Clinical application of whole-exome and whole-genome sequencing is expanding at a rapid pace but presents many challenges. Its utility in NBS has yet to be demonstrated and its application in the pediatric population requires examination, not only for potential clinical benefits, but also for the unique ethical challenges it presents.

引用

页数：15

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