Evidence map›Paper›PMID 31171844›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.

A Eliot Shearer, Jun Shen, Sami Amr, Cynthia C Morton, Richard J Smith, Newborn Hearing Screening Working Group of the National Coordinating Center for the Regional Genetics Networks

Erratum issuedOpen access · hybridAbstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 55 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
55citing papers in PubMed, 2 pooled it
8.0field-weighted citation impact, top 1% of its field
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 113 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Trial
  4. Genotype-guided Recall Delineates the Adult Auditory Phenotype in GJB2 p.V37I Homozygotes: High-frequency Vulnerability and Environmental Modulation.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2026
    Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2025
    Article
  10. Review
  11. Review
  12. Review
  13. Article
  14. Observational
  15. [Genetic counseling for hearing loss today].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024
    Article
  16. Article
  17. Review
  18. Article
  19. Various aspects of hearing loss in newborns: A narrative review.World journal of clinical pediatrics · 2023
    Review
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 2 countries.

A Eliot ShearerDepartment of Otolaryngology-Head & Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.ORCID http://orcid.org/0000-0002-5324-4805
Jun ShenDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8362-7535
Sami AmrDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0927-6057
Cynthia C MortonDepartment of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. cmorton@bwh.harvard.edu.ORCID http://orcid.org/0000-0003-2198-6756
Richard J SmithDepartment of Otolaryngology-Head & Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA. richard-smith@uiowa.edu.ORCID http://orcid.org/0000-0003-1201-6731
Newborn Hearing Screening Working Group of the National Coordinating Center for the Regional Genetics Networks
Brigham and Women's Hospital · USUniversity of Iowa Hospitals and Clinics · USHarvard University · US

Funding

NONSYNDROMIC HEARING LOSS--A COLLABORATIVE STUDYR01DC002842 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1996 to 2024
$12.7M
TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
Optimizing Genetic Testing for Deafness for Clinical DiagnosticsR01DC012049 · NIDCD · UNIVERSITY OF IOWA · PI TERRY A BRAUN, Thomas L. Casavant · 2011 to 2026
$8.7M
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSSR01DC003544 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1998 to 2017
$7.8M
SEQuencing a Baby for an Optimal Outcome (SEQaBOO)R01DC015052 · NIDCD · BRIGHAM AND WOMEN'S HOSPITAL · PI MORTON, CYNTHIA CASSON · 2016 to 2020
$3.8M
NIDCD NIH HHS R01 DC002842NIDCD NIH HHS R01 DC003544NIDCD NIH HHS R01 DC012049NIDCD NIH HHS R01 DC015052NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

Early intervention for newborns who are deaf or hard-of-hearing leads to improved language, communication, and social-emotional outcomes. Universal physiologic newborn hearing screening has been widely implemented across the United States with the goal of identifying newborns who are deaf or hard-of-hearing, thereby reducing time to diagnosis and intervention. The current physiologic newborn hearing screen is generally successful in accomplishing its goals but improvements could be made. In the past ten years, genetic testing has emerged as the most important etiological diagnostic test for evaluation of children with deafness and congenital cytomegalovirus has been recognized as a major cause of childhood deafness that may be treatable. A comprehensive newborn hearing screen that includes physiologic, genetic, and cytomegalovirus testing would have multiple benefits, including (1) identifying newborns with deafness missed by the current physiologic screen, (2) providing etiologic information, and (3) possibly decreasing the number of children lost to follow up. We present a framework for integrating limited genetic testing and cytomegalovirus screening into the current physiologic newborn hearing screening. We identify needed areas of research and include an overview of genome sequencing, which we believe will become available over the next decade as a complement to universal physiologic newborn hearing screening.

Indexed as

DeafnessFemaleHearing LossHearing TestsHumansInfantInfant, NewbornMaleNeonatal ScreeningUnited Statescytomegalovirusdeafnessgeneticsgenomicsnewborn hearing screening

Identifiers

PMID31171844
PMCPMC6831511
OpenAlexW2948480340

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
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Registered trials

None linked

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.