Newborn sequencing in genomic medicine and public health

Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, Alan H. Beggs, Steven E. Brenner, Amy M. Brower, Julie A. Cakici, Ozge Ceyhan-Birsoy, Kee Chan, Flavia Chen, Robert J. Currier, Dmitry Dukhovny, Robert C. Green, Julie Harris-Wai, Ingrid A. Holm, Brenda Iglesias, Galen Joseph, Stephen F. Kingsmore, Barbara A. Koenig, Pui Yan KwokJohn Lantos, Steven J. Leeder, Megan A. Lewis, Amy L. McGuire, Laura V. Milko, Sean D. Mooney, Richard B. Parad, Stacey Pereira, Joshua Petrikin, Bradford C. Powell, Cynthia M. Powell, Jennifer M. Puck, Heidi L. Rehm, Neil Risch, Myra Roche, Joseph T. Shieh, Narayanan Veeraraghavan, Michael S. Watson, Laurel Willig, Timothy W. Yu, Tiina Urv, Anastasia L. Wise

Research output: Contribution to journalReview article

59 Citations (Scopus)

Abstract

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genomescale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.

Original languageEnglish (US)
Article numbere20162252
JournalPediatrics
Volume139
Issue number2
DOIs
StatePublished - Feb 1 2017

Fingerprint

Public Health
Medicine
Newborn Infant
Pediatrics
Technology
Genome
Costs and Cost Analysis
Health

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Berg, J. S., Agrawal, P. B., Bailey, D. B., Beggs, A. H., Brenner, S. E., Brower, A. M., ... Wise, A. L. (2017). Newborn sequencing in genomic medicine and public health. Pediatrics, 139(2), [e20162252]. https://doi.org/10.1542/peds.2016-2252

Newborn sequencing in genomic medicine and public health. / Berg, Jonathan S.; Agrawal, Pankaj B.; Bailey, Donald B.; Beggs, Alan H.; Brenner, Steven E.; Brower, Amy M.; Cakici, Julie A.; Ceyhan-Birsoy, Ozge; Chan, Kee; Chen, Flavia; Currier, Robert J.; Dukhovny, Dmitry; Green, Robert C.; Harris-Wai, Julie; Holm, Ingrid A.; Iglesias, Brenda; Joseph, Galen; Kingsmore, Stephen F.; Koenig, Barbara A.; Kwok, Pui Yan; Lantos, John; Leeder, Steven J.; Lewis, Megan A.; McGuire, Amy L.; Milko, Laura V.; Mooney, Sean D.; Parad, Richard B.; Pereira, Stacey; Petrikin, Joshua; Powell, Bradford C.; Powell, Cynthia M.; Puck, Jennifer M.; Rehm, Heidi L.; Risch, Neil; Roche, Myra; Shieh, Joseph T.; Veeraraghavan, Narayanan; Watson, Michael S.; Willig, Laurel; Yu, Timothy W.; Urv, Tiina; Wise, Anastasia L.

In: Pediatrics, Vol. 139, No. 2, e20162252, 01.02.2017.

Research output: Contribution to journalReview article

Berg, JS, Agrawal, PB, Bailey, DB, Beggs, AH, Brenner, SE, Brower, AM, Cakici, JA, Ceyhan-Birsoy, O, Chan, K, Chen, F, Currier, RJ, Dukhovny, D, Green, RC, Harris-Wai, J, Holm, IA, Iglesias, B, Joseph, G, Kingsmore, SF, Koenig, BA, Kwok, PY, Lantos, J, Leeder, SJ, Lewis, MA, McGuire, AL, Milko, LV, Mooney, SD, Parad, RB, Pereira, S, Petrikin, J, Powell, BC, Powell, CM, Puck, JM, Rehm, HL, Risch, N, Roche, M, Shieh, JT, Veeraraghavan, N, Watson, MS, Willig, L, Yu, TW, Urv, T & Wise, AL 2017, 'Newborn sequencing in genomic medicine and public health', Pediatrics, vol. 139, no. 2, e20162252. https://doi.org/10.1542/peds.2016-2252
Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM et al. Newborn sequencing in genomic medicine and public health. Pediatrics. 2017 Feb 1;139(2). e20162252. https://doi.org/10.1542/peds.2016-2252
Berg, Jonathan S. ; Agrawal, Pankaj B. ; Bailey, Donald B. ; Beggs, Alan H. ; Brenner, Steven E. ; Brower, Amy M. ; Cakici, Julie A. ; Ceyhan-Birsoy, Ozge ; Chan, Kee ; Chen, Flavia ; Currier, Robert J. ; Dukhovny, Dmitry ; Green, Robert C. ; Harris-Wai, Julie ; Holm, Ingrid A. ; Iglesias, Brenda ; Joseph, Galen ; Kingsmore, Stephen F. ; Koenig, Barbara A. ; Kwok, Pui Yan ; Lantos, John ; Leeder, Steven J. ; Lewis, Megan A. ; McGuire, Amy L. ; Milko, Laura V. ; Mooney, Sean D. ; Parad, Richard B. ; Pereira, Stacey ; Petrikin, Joshua ; Powell, Bradford C. ; Powell, Cynthia M. ; Puck, Jennifer M. ; Rehm, Heidi L. ; Risch, Neil ; Roche, Myra ; Shieh, Joseph T. ; Veeraraghavan, Narayanan ; Watson, Michael S. ; Willig, Laurel ; Yu, Timothy W. ; Urv, Tiina ; Wise, Anastasia L. / Newborn sequencing in genomic medicine and public health. In: Pediatrics. 2017 ; Vol. 139, No. 2.
@article{ac648a72d3ca4850afa9b1c2d1f7f145,
title = "Newborn sequencing in genomic medicine and public health",
abstract = "The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genomescale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.",
author = "Berg, {Jonathan S.} and Agrawal, {Pankaj B.} and Bailey, {Donald B.} and Beggs, {Alan H.} and Brenner, {Steven E.} and Brower, {Amy M.} and Cakici, {Julie A.} and Ozge Ceyhan-Birsoy and Kee Chan and Flavia Chen and Currier, {Robert J.} and Dmitry Dukhovny and Green, {Robert C.} and Julie Harris-Wai and Holm, {Ingrid A.} and Brenda Iglesias and Galen Joseph and Kingsmore, {Stephen F.} and Koenig, {Barbara A.} and Kwok, {Pui Yan} and John Lantos and Leeder, {Steven J.} and Lewis, {Megan A.} and McGuire, {Amy L.} and Milko, {Laura V.} and Mooney, {Sean D.} and Parad, {Richard B.} and Stacey Pereira and Joshua Petrikin and Powell, {Bradford C.} and Powell, {Cynthia M.} and Puck, {Jennifer M.} and Rehm, {Heidi L.} and Neil Risch and Myra Roche and Shieh, {Joseph T.} and Narayanan Veeraraghavan and Watson, {Michael S.} and Laurel Willig and Yu, {Timothy W.} and Tiina Urv and Wise, {Anastasia L.}",
year = "2017",
month = "2",
day = "1",
doi = "10.1542/peds.2016-2252",
language = "English (US)",
volume = "139",
journal = "Pediatrics",
issn = "0031-4005",
publisher = "American Academy of Pediatrics",
number = "2",

}

TY - JOUR

T1 - Newborn sequencing in genomic medicine and public health

AU - Berg, Jonathan S.

AU - Agrawal, Pankaj B.

AU - Bailey, Donald B.

AU - Beggs, Alan H.

AU - Brenner, Steven E.

AU - Brower, Amy M.

AU - Cakici, Julie A.

AU - Ceyhan-Birsoy, Ozge

AU - Chan, Kee

AU - Chen, Flavia

AU - Currier, Robert J.

AU - Dukhovny, Dmitry

AU - Green, Robert C.

AU - Harris-Wai, Julie

AU - Holm, Ingrid A.

AU - Iglesias, Brenda

AU - Joseph, Galen

AU - Kingsmore, Stephen F.

AU - Koenig, Barbara A.

AU - Kwok, Pui Yan

AU - Lantos, John

AU - Leeder, Steven J.

AU - Lewis, Megan A.

AU - McGuire, Amy L.

AU - Milko, Laura V.

AU - Mooney, Sean D.

AU - Parad, Richard B.

AU - Pereira, Stacey

AU - Petrikin, Joshua

AU - Powell, Bradford C.

AU - Powell, Cynthia M.

AU - Puck, Jennifer M.

AU - Rehm, Heidi L.

AU - Risch, Neil

AU - Roche, Myra

AU - Shieh, Joseph T.

AU - Veeraraghavan, Narayanan

AU - Watson, Michael S.

AU - Willig, Laurel

AU - Yu, Timothy W.

AU - Urv, Tiina

AU - Wise, Anastasia L.

PY - 2017/2/1

Y1 - 2017/2/1

N2 - The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genomescale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.

AB - The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genomescale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.

UR - http://www.scopus.com/inward/record.url?scp=85014060383&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85014060383&partnerID=8YFLogxK

U2 - 10.1542/peds.2016-2252

DO - 10.1542/peds.2016-2252

M3 - Review article

C2 - 28096516

AN - SCOPUS:85014060383

VL - 139

JO - Pediatrics

JF - Pediatrics

SN - 0031-4005

IS - 2

M1 - e20162252

ER -