Expanded newborn screening: Implications for genomic medicine

被引：31

作者：

McCabe, Linda L. ^{[1
,2
]}

McCabe, Edward R. B. ^{[1
,2
,3
,4
]}

机构：

[1] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet & Pediat, Los Angeles, CA 90024 USA

[2] Univ Calif Los Angeles, Ctr Soc & Genet, Los Angeles, CA 90024 USA

[3] Univ Calif Los Angeles, Calif Nanosyst Inst, Los Angeles, CA 90095 USA

[4] Univ Calif Los Angeles, Henry Samueli Sch Engn & Appl Sci, Dept Bioengn, Los Angeles, CA 90095 USA

来源：

ANNUAL REVIEW OF MEDICINE | 2008年 / 59卷

关键词：

continuous quality improvement (CQI); tandem mass spectrometry (MS/MS); two-tiered screening;

D O I：

10.1146/annurev.med.59.110106.132016

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：

Newborn screening (NBS) represents the largest volume of genetic testing. The 45-year history of NBS has demonstrated its benefits, as well as the importance of an evidence base. The recent addition of tandem mass spectrometry (MS/MS) resulted in a fivefold increase in the number of tests. Experience with MS/MS also showed that laboratory tests are just one part of the NBS system. The lessons learned from NBS will provide important insights as we move into the predictive, preventive, and personalized era of genomic medicine.

引用

页码：163 / 175

页数：13

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