Evidence map›Paper›PMID 29986673›Full record

Trial reportBMC pediatrics2018

The BabySeq project: implementing genomic sequencing in newborns.

Ingrid A Holm, Pankaj B Agrawal, Ozge Ceyhan-Birsoy, Kurt D Christensen, Shawn Fayer, Leslie A Frankel, Casie A Genetti, Joel B Krier, Rebecca C LaMay, Harvey L Levy and 11 more

Registry-linked trialAbstract readRandomized Controlled Trial
In one paragraph

Trial report in BMC pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02422511 (Genomic Sequencing for Childhood Risk and Newborn Illness), which is not on this map. Cited by 124 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
124citing 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
3 · Its place in the literature

Who cites it

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

  1. Pooled it
  2. Pooled it
  3. Trial
  4. Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2020
    Trial
  5. Trial
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Review
  12. Elective genomic sequencing for adults in research, clinical and commercial contexts.medRxiv : the preprint server for health sciences · 2026
    Article
  13. The Role of the Pediatric Pharmacist in Precision Medicine and Clinical Pharmacogenomics for Children.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG · 2026
    Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Article

64 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

21 authors.

Ingrid A HolmDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. ingrid.holm@childrens.harvard.edu.ORCID 0000-0001-5339-4451
Pankaj B AgrawalDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Ozge Ceyhan-BirsoyLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
Kurt D ChristensenDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Shawn FayerDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Leslie A FrankelCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Casie A GenettiDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Joel B KrierDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Rebecca C LaMayDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Harvey L LevyDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Amy L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Richard B ParadDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.
Peter J ParkDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Stacey PereiraCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
Heidi L RehmLaboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.
Talia S SchwartzDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Susan E WaisbrenDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Timothy W YuDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
BabySeq Project Team
Robert C GreenDivision of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Alan H BeggsDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. Beggs@enders.tch.harvard.edu.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Harvard Clinical and Translational Science Center (UL1)UL1TR000170 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2012 to 2013
$31.4M
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
NCATS NIH HHS UL1 TR000170NCI NIH HHS P30 CA008748NHGRI NIH HHS U19 HD077671NICHD NIH HHS U19 HD077671
6 · The paper itself

Abstract

backgroundThe greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The "BabySeq Project" is a randomized trial that explores the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of healthy and sick newborns.

methodsFamilies of newborns are enrolled from Boston Children's Hospital and Brigham and Women's Hospital nurseries, and half are randomized to receive genomic sequencing and a report that includes monogenic disease variants, recessive carrier variants for childhood onset or actionable disorders, and pharmacogenomic variants. All families participate in a disclosure session, which includes the return of results for those in the sequencing arm. Outcomes are collected through review of medical records and surveys of parents and health care providers and include the rationale for choice of genes and variants to report; what genomic data adds to the medical management of sick and healthy babies; and the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of healthy and sick newborns. DISCUSSION: The BabySeq Project will provide empirical data about the risks, benefits and costs of newborn genomic sequencing and will inform policy decisions related to universal genomic screening of newborns.

trial registrationThe study is registered in ClinicalTrials.gov Identifier: NCT02422511 . Registration date: 10 April 2015.

Indexed as

Exome SequencingFamilyGenetic CounselingGenetic Predisposition to DiseaseHealth Care CostsHumansInfant, NewbornNeonatal ScreeningRisk AssessmentEthical, legal, social implicationsMethodsNewborn screeningNewborn sequencingRandomized trialWhole exome sequencing

Identifiers

PMID29986673
PMCPMC6038274

What OpenQuestion holds

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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.