Evidence map›Paper›PMID 28096516›Full record

Trial reportPediatrics2017

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 and 32 more

3 registry-linked trialsAbstract readRandomized Controlled Trial
In one paragraph

Trial report in Pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 150 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
150citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT02422511 nacompletednot on this map

Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)

TypeinterventionalSponsorBrigham and Women's HospitalRan2015 to 2021Enrolled1,205ConditionsHereditary Disease, Genetic Predisposition to DiseaseArmsGenomic sequencing, Family history report
NCT03276637 nacompletednot on this map

The MilSeq Project: Enabling Personalized Medicine Through Exome Sequencing in the U.S. Air Force

TypeinterventionalSponsorBrigham and Women's HospitalRan2017 to 2020Enrolled105ConditionsHealthy Adults, Genetic Predisposition to DiseaseArmsWhole exome sequencing
NCT04905537 recruitingnot on this mapstarted 2021, after this paper: background citation

Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness

TypeobservationalSponsorChildren's Hospital of Fudan UniversityRan2021 to 2025Enrolled4,000ConditionsGenetic Screening, Hereditary Disease, Newborn, StillbirthArmsNo intervention
3 · Its place in the literature

Who cites it

150 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  6. Values clarification and parental decision making about newborn genomic sequencing.Health psychology : official journal of the Division of Health Psychology, American Psychological Association · 2020
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90 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

42 authors.

Jonathan S BergDepartments of Genetics and jonathan_berg@med.unc.edu.
Pankaj B AgrawalDivisions of Newborn Medicine and.
Donald B BaileyRTI International, Research Triangle Park, North Carolina.
Alan H BeggsGenetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Steven E BrennerUniversity of California, Berkeley, California.
Amy M BrowerAmerican College of Medical Genetics and Genomics, Bethesda, Maryland.
Julie A CakiciRady Children's Institute for Genomic Medicine, San Diego, California.
Ozge Ceyhan-BirsoyLaboratory for Molecular Medicine.
Kee ChanChicago School of Public Health, University of Illinois, Chicago, Illinois.
Flavia ChenInstitute for Human Genetics.
Robert J CurrierGenetic Disease Screening Program, California Department of Public Health, Sacramento, California.
Dmitry DukhovnyDepartment of Pediatrics and Division of Neonatology, Oregon Health & Science University, Portland, Oregon.
Robert C GreenDivision of Genetics, and.
Julie Harris-WaiInstitute for Human Genetics.
Ingrid A HolmGenetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Brenda IglesiasNational Human Genome Research Institute and.
Galen JosephDepartment of Anthropology, History, and Social Medicine.
Stephen F KingsmoreRady Children's Institute for Genomic Medicine, San Diego, California.
Barbara A KoenigInstitute for Health and Aging.
Pui-Yan KwokInstitute for Human Genetics.
John LantosDepartment of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
Steven J LeederDepartment of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
Megan A LewisRTI International, Research Triangle Park, North Carolina.
Amy L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas; and.
Laura V MilkoDepartments of Genetics and.
Sean D MooneyUniversity of Washington, Seattle, Washington.
Richard B ParadDepartment of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.
Stacey PereiraCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas; and.
Joshua PetrikinDepartment of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
Bradford C PowellDepartments of Genetics and.
Cynthia M PowellPediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina.
Jennifer M PuckDepartment of Pediatrics, University of California, San Francisco, California.
Heidi L RehmLaboratory for Molecular Medicine.
Neil RischInstitute for Human Genetics.
Myra RochePediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina.
Joseph T ShiehInstitute for Human Genetics.
Narayanan VeeraraghavanRady Children's Institute for Genomic Medicine, San Diego, California.
Michael S WatsonAmerican College of Medical Genetics and Genomics, Bethesda, Maryland.
Laurel WilligDepartment of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri.
Timothy W YuGenetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Tiina UrvNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland.
Anastasia L WiseNational Human Genome Research Institute and.

Funding

Virology Research Program (Program 4)P30CA016086 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI David Darr · 1985 to 2026
$201.5M
Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn ScreeningU19HD077627 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOENIG, BARBARA A., KWOK, PUI-YAN · 2013 to 2018
$6.6M
NC NEXUS, North Carolina Newborn Exome Sequencing for Universal ScreeningU19HD077632 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, POWELL, CYNTHIA MARION · 2013 to 2018
$6.3M
ConProject-001U19HD077693 · NICHD · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · PI KINGSMORE, STEPHEN FRANCIS · 2013 to 2018
$6.2M
Genome Sequence-Based Screening for Childhood Risk and Newborn IllnessU19HD077671 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI BEGGS, ALAN H., GREEN, ROBERT C. · 2013 to 2018
$6.1M
Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2M
Center for Transdisciplinary ELSI Research in Translational GenomicsP20HG007243 · NHGRI · KAISER FOUNDATION RESEARCH INSTITUTE · PI HARRIS-WAI, JULIE NOEL, KOENIG, BARBARA A. · 2013 to 2016
$958k
NCI NIH HHS P30 CA016086NHGRI NIH HHS P20 HG007243NICHD NIH HHS HHSN275201300011CNICHD NIH HHS U19 HD077627NICHD NIH HHS U19 HD077632NICHD NIH HHS U19 HD077671NICHD NIH HHS U19 HD077693NICHD NIH HHS U54 HD090255
6 · The paper itself

Abstract

The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale 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.

Indexed as

Genetic TestingNeonatal ScreeningPublic HealthSequence Analysis, DNAExomeGenetic Carrier ScreeningGenetic ResearchGenome-Wide Association StudyGenomic Structural VariationHumansInfant, NewbornIntensive Care Units, NeonatalPredictive Value of TestsProspective StudiesUnited States

Identifiers

PMID28096516
PMCPMC5260149

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.