Literature DB >> 26438605

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

Jonathan S Berg1, Cynthia M Powell2.   

Abstract

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.
Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.

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Year:  2015        PMID： 26438605      PMCID： PMC4665041          DOI： 10.1101/cshperspect.a023150

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN： 2157-1422            Impact factor:   6.915


  49 in total

1.  Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue.

Authors:  D S Millington; D L Norwood; N Kodo; C R Roe; F Inoue
Journal:  Anal Biochem       Date:  1989-08-01       Impact factor: 3.365

2.  Changing perspectives on the benefits of newborn screening.

Authors:  Donald B Bailey; Laura M Beskow; Arlene M Davis; Debra Skinner
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2006

3.  Newborn screening: toward a uniform screening panel and system--executive summary.

Authors: 
Journal:  Pediatrics       Date:  2006-05       Impact factor: 7.124

4.  The new genetics and informed consent: differentiating choice to preserve autonomy.

Authors:  Eline M Bunnik; Antina de Jong; Niels Nijsingh; Guido M W R de Wert
Journal:  Bioethics       Date:  2013-05-30       Impact factor: 1.898

5.  Why is preventive medicine exempted from ethical constraints?

Authors:  P Skrabanek
Journal:  J Med Ethics       Date:  1990-12       Impact factor: 2.903

6.  Limitations of universal newborn hearing screening in early identification of pediatric cochlear implant candidates.

Authors:  Nancy Melinda Young; Brian Kip Reilly; Larisa Burke
Journal:  Arch Otolaryngol Head Neck Surg       Date:  2011-03

7.  The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.

Authors:  D M Frazier; D S Millington; S E McCandless; D D Koeberl; S D Weavil; S H Chaing; J Muenzer
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

Review 8.  National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.

Authors: 
Journal:  Pediatrics       Date:  2001-10       Impact factor: 7.124

9.  Predictive genetic testing of children for adult-onset diseases and psychological harm.

Authors:  P J Malpas
Journal:  J Med Ethics       Date:  2008-04       Impact factor: 2.903

10.  Results of newborn screening for hearing loss: effects on the family in the first 2 years of life.

Authors:  Betty R Vohr; Julie Jodoin-Krauzyk; Richard Tucker; Mary Jane Johnson; Deborah Topol; Marianne Ahlgren
Journal:  Arch Pediatr Adolesc Med       Date:  2008-03
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  19 in total

1.  Newborn Sequencing in Genomic Medicine and Public Health.

Authors:  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 Kwok; John 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
Journal:  Pediatrics       Date:  2017-01-17       Impact factor: 7.124

2.  Current Status and Future Opportunities in Lung Precision Medicine Research with a Focus on Biomarkers. An American Thoracic Society/National Heart, Lung, and Blood Institute Research Statement.

Authors:  Ann Chen Wu; James P Kiley; Patricia J Noel; Shashi Amur; Esteban G Burchard; John P Clancy; Joshua Galanter; Maki Inada; Tiffanie K Jones; Jonathan A Kropski; James E Loyd; Lawrence M Nogee; Benjamin A Raby; Angela J Rogers; David A Schwartz; Don D Sin; Avrum Spira; Scott T Weiss; Lisa R Young; Blanca E Himes
Journal:  Am J Respir Crit Care Med       Date:  2018-12-15       Impact factor: 21.405

3.  Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies.

Authors:  Josephine Johnston; John D Lantos; Aaron Goldenberg; Flavia Chen; Erik Parens; Barbara A Koenig
Journal:  Hastings Cent Rep       Date:  2018-07       Impact factor: 2.683

4.  What Genomic Sequencing Can Offer Universal Newborn Screening Programs.

Authors:  Cynthia M Powell
Journal:  Hastings Cent Rep       Date:  2018-07       Impact factor: 2.683

5.  Genetic screening: birthright or earned with age?

Authors:  Lonna Mollison; Jonathan S Berg
Journal:  Expert Rev Mol Diagn       Date:  2017-06-29       Impact factor: 5.225

6.  Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.

Authors:  Lainie Friedman Ross; Ellen Wright Clayton
Journal:  Pediatrics       Date:  2019-11-12       Impact factor: 7.124

7.  An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Authors:  Laura V Milko; Julianne M O'Daniel; Daniela M DeCristo; Stephanie B Crowley; Ann Katherine M Foreman; Kathleen E Wallace; Lonna F Mollison; Natasha T Strande; Zahra S Girnary; Lacey J Boshe; Arthur S Aylsworth; Muge Gucsavas-Calikoglu; Dianne M Frazier; Neeta L Vora; Myra I Roche; Bradford C Powell; Cynthia M Powell; Jonathan S Berg
Journal:  J Pediatr       Date:  2019-03-07       Impact factor: 4.406

8.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

Review 9.  Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium.

Authors:  Michael D Linderman; Daiva E Nielsen; Robert C Green
Journal:  J Pers Med       Date:  2016-03-25

10.  A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.

Authors:  Lilian Downie; Jane L Halliday; Rachel A Burt; Sebastian Lunke; Elly Lynch; Melissa Martyn; Zeffie Poulakis; Clara Gaff; Valerie Sung; Melissa Wake; Matthew Hunter; Kerryn Saunders; Elizabeth Rose; Heidi L Rehm; David J Amor
Journal:  BMJ Paediatr Open       Date:  2017-09-14
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