Evidence map›Paper›PMID 30600268›Full record

ReviewPediatrics2019

Challenging the Current Recommendations for Carrier Testing in Children.

Grace E VanNoy, Casie A Genetti, Amy L McGuire, Robert C Green, Alan H Beggs, Ingrid A Holm, BabySeq Project Group

Registry-linked trialAbstract readReview
In one paragraph

Review 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 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–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

13 citing papers in PubMed.

  1. 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
  2. Article
  3. Article
  4. Article
  5. The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges.International journal of neonatal screening · 2024
    Review
  6. Article
  7. Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023
    Review
  8. Article
  9. Review
  10. Article
  11. Clinical utility of genomic sequencing.Current opinion in pediatrics · 2019
    Review
  12. Article
  13. 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.

Grace E VanNoyDivision of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
Casie A GenettiDivision of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
Amy L McGuireCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas.
Robert C GreenDepartments of Medicine and.
Alan H BeggsDivision of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.
Ingrid A HolmDivision of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts; ingrid.holm@childrens.harvard.edu.
BabySeq Project Group

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 authors of current professional guidelines generally do not support the return of information about genetic carrier status for infants and children because of a perceived lack of immediate benefit and an abundance of caution regarding potential harm and desire to protect the children's future autonomy. The advent of genomic sequencing, used either as a diagnostic or a screening tool, and the increasing use of this technology in childhood creates the potential for the identification of carrier status in the pediatric period. As part of the BabySeq Project, researchers are exploring the implications of genomic sequencing in both newborns who are healthy and newborns who are sick and developing policies and procedures for the return of carrier status information to the parents and physicians of newborns. In this commentary, we review the history of carrier testing in children and explore the potential benefits, risks, and challenges of returning such results both for the children, their parents, and potential future siblings.

Indexed as

Genetic Carrier ScreeningGenetic VariationPractice Guidelines as TopicTruth DisclosureAge FactorsChildChild, PreschoolHarm ReductionHumansInfantInfant, NewbornNeonatal ScreeningParentsPersonal AutonomyRandomized Controlled Trials as TopicRisk Assessment

Identifiers

PMID30600268
PMCPMC6433123

What OpenQuestion holds

Textmetadata
LicenceTDM
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.