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Expanded Newborn Screening: Implications for Genomic Medicine

Published:2008-02-01 Issue:1 Volume:59 Page:163-175
ISSN:0066-4219
Container-title:Annual Review of Medicine
language:en
Short-container-title:Annu. Rev. Med.

Author:

McCabe Linda L.¹²,McCabe Edward R.B.¹²³⁴

Affiliation:

1. Departments of Human Genetics and Pediatrics, David Geffen School of Medicine at the University of California, Los Angeles;

2. UCLA Center for Society and Genetics;

3. California Nanosystems Institute;

4. Department of Bioengineering, Henry Samueli School of Engineering and Applied Science, Los Angeles, California 90095;,

Abstract

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.

Publisher

Annual Reviews

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

https://www.annualreviews.org/doi/pdf/10.1146/annurev.med.59.110106.132016

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