Expanded newborn screening: implications for genomic medicine

Annual Review of Medicine
Linda L McCabe, Edward R B McCabe

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.

References

Aug 1, 1991·Biochemical Medicine and Metabolic Biology·W K SeltzerE R McCabe
Dec 1, 1990·Biochemical Medicine and Metabolic Biology·E R McCabeR G Fenwick
Jun 19, 1986·The New England Journal of Medicine·M H GastonJ S Lobel
Sep 4, 1987·JAMA : the Journal of the American Medical Association
Jul 13, 2000·The Journal of Pediatrics·A H Jobe
Sep 26, 2000·Molecular Genetics and Metabolism·K M Dipple, E R McCabe
Oct 11, 2001·Molecular Genetics and Metabolism·B L Therrell
Nov 21, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·E R McCabe
Jun 8, 2002·Molecular Genetics and Metabolism·Linda L McCabe, Edward R B McCabe
Sep 11, 2002·American Journal of Hematology·Urvashi BhardwajEdward R B McCabe
Dec 7, 2002·Molecular Genetics and Metabolism·Linda L McCabeEdward R B McCabe
Jan 3, 2003·The New England Journal of Medicine·Muin J KhouryEdward R B McCabe
Oct 22, 2003·Molecular Genetics and Metabolism·Urvashi BhardwajEdward R B McCabe
Jul 27, 2004·Current Opinion in Pediatrics·Piero RinaldoDietrich Matern
May 7, 2005·American Journal of Human Genetics·Ganesh SriramKatrina M Dipple
Nov 2, 2005·Molecular Genetics and Metabolism·Sean A McGheeEdward R B McCabe
Nov 8, 2005·Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology·Urvashi Bhardwaj, Edward R B McCabe
Nov 18, 2005·The Journal of Pediatrics·Sean A McGheeEdward R B McCabe
Jan 7, 2006·Pediatrics·Francesca Menniti-IppolitoAchille Caputi
Apr 8, 2006·Journal of Inherited Metabolic Disease·D M FrazierJ Muenzer
Apr 18, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Scott D GrosseRodney J Pollitt
Jun 1, 2006·Pediatrics·Lisa Feuchtbaum, George Cunningham
Jun 1, 2006·Pediatrics·Aaron E Carroll, Stephen M Downs
Jun 10, 2006·Journal of Inherited Metabolic Disease·William J Rhead
Jun 10, 2006·Journal of Inherited Metabolic Disease·Janice M Fletcher
Jun 20, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics
Aug 23, 2006·Pediatric Research·Sean A McGhee, Edward R B McCabe
Nov 8, 2006·Human Mutation·Christopher M StanczakEdward R B McCabe
Nov 28, 2006·Molecular Genetics and Metabolism·Lisa A SchimmentiNicola Longo
Dec 22, 2006·Mental Retardation and Developmental Disabilities Research Reviews·Piero RinaldoDietrich Matern

❮ Previous
Next ❯

Citations

Aug 7, 2010·American Journal of Epidemiology·Muin J KhouryJohn P A Ioannidis
Jun 18, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Linda L McCabe, Edward R B McCabe
Nov 14, 2008·Current Opinion in Pediatrics·Edward J Lose
Oct 15, 2009·Annual Review of Medicine·C Thomas Caskey
Jan 1, 2008·Italian Journal of Pediatrics·Nicola Brunetti-Pierri
Feb 2, 2010·Pediatric Research·Edward R B McCabe
Sep 4, 2009·Personalized Medicine·Zoran BrkanacBryan H King
Nov 6, 2013·Annual Review of Medicine·C Thomas CaskeyAmy L McGuire
Jun 29, 2010·Nursing for Women's Health·Emily Drake, Mary E Gibson
Sep 3, 2013·The Journal of Pediatrics·Yuval E LandauHarvey L Levy
Nov 15, 2012·Public Health·C M MakA Y W Chan
Feb 2, 2010·Pathologie-biologie·D BonneauD Stoppa-Lyonnet
Jun 2, 2009·The Journal of Allergy and Clinical Immunology·Mei W BakerJohn M Routes
Nov 15, 2008·Molecular and Cellular Endocrinology·Uta CeglarekGeorg Martin Fiedler
Jul 19, 2013·Molecular Genetics and Metabolism·Shunji TomatsuTadao Orii
Dec 4, 2013·Critical Reviews in Clinical Laboratory Sciences·Chloe Miu MakChing-Wan Lam
Apr 15, 2014·Molecular Genetics and Metabolism·Edward R B McCabe
Oct 27, 2015·Seminars in Perinatology·Ludmila Francescatto, Nicholas Katsanis
Jan 17, 2017·Advances in Neonatal Care : Official Journal of the National Association of Neonatal Nurses·Rachel A Joseph
Sep 3, 2020·Genes·Raquel YahyaouiDomingo González-Lamuño
Nov 8, 2017·Clinical Biochemistry·Andraz SmonKatarina Trebusak Podkrajsek
Aug 14, 2021·Molecular Genetics and Metabolism·Edward R B McCabe

❮ Previous
Next ❯

Methods Mentioned

BETA
chips
enzyme-linked immunosorbent assays

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Related Papers

Annual Review of Genomics and Human Genetics
Linda L McCabe, Edward R B McCabe
Journal of Obstetric, Gynecologic, and Neonatal Nursing : JOGNN
Association of Women's Health, Obstetric and Neonatal Nursing
The New England Journal of Medicine
Muin J KhouryEdward R B McCabe
© 2021 Meta ULC. All rights reserved