Evidence map›Paper›PMID 30600270›Full record

ArticlePediatrics2019

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.

Ingrid A Holm, Amy McGuire, Stacey Pereira, Heidi Rehm, Robert C Green, Alan H Beggs, BabySeq Project Team

Registry-linked trialAbstract readCase Reports
In one paragraph

Article in Pediatrics, 2019. 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 35 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
35citing 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

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

  1. Pooled it
  2. Pooled it
  3. 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
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Family genetic risk communication and reverse cascade testing in the BabySeq project.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  10. Article
  11. Article
  12. Article
  13. The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024
    Review
  14. Article
  15. Article
  16. Article
  17. Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023
    Review
  18. [Genomic newborn screening-research approaches, challenges, and opportunities].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023
    Review
  19. Article
  20. Article
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

7 authors.

Ingrid A HolmDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts; ingrid.holm@childrens.harvard.edu.
Amy McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.
Stacey PereiraCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.
Heidi RehmPathology.
Robert C GreenBroad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts; and.
Alan H BeggsDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
BabySeq Project Team

Funding

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
NICHD NIH HHS U19 HD077671
6 · The paper itself

Abstract

The return of information from genomic sequencing in children, especially in early life, brings up complex issues around parental autonomy, the child's future autonomy, the best interest standard, and the best interests of the family. These issues are particularly important in considering the return of genomic results for adult-onset-only conditions in children. The BabySeq Project is a randomized trial used to explore the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of newborns who are healthy or sick. We discuss a case in which a variant in a gene for an actionable, adult-onset-only condition was detected, highlighting the ethical issues surrounding the return of such finding in a newborn to the newborn's parents.

Indexed as

Age of OnsetGenes, BRCA2ParentsWhole Genome SequencingAdultBreast NeoplasmsFatal OutcomeFemaleGenetic VariationHigh-Throughput Nucleotide SequencingHumansInfant, NewbornMaleNeonatal ScreeningOvarian NeoplasmsPersonal Autonomy

Identifiers

PMID30600270
PMCPMC6433124

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.