Evidence map›Paper›PMID 40632427›Full record

ArticleJournal of community genetics2025

Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio.

Cara L Barnett, Prashant Malhotra, Allyson VanHorn, Boriana Zaharieva, John Myers, William J Riggs, Elizabeth Jordan

Abstract read
In one paragraph

Article in Journal of community genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

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

1 citing paper in PubMed.

  1. 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.

Cara L BarnettDivision of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.ORCID http://orcid.org/0000-0003-2980-4005
Prashant MalhotraDepartment of Otolaryngology and the Hearing Program, Nationwide Children's Hospital, Columbus, OH, USA.ORCID http://orcid.org/0000-0002-8690-2800
Allyson VanHornChild and Specialty Health Services, The Ohio Department of Health, Columbus, OH, USA.
Boriana ZaharievaChild and Specialty Health Services, The Ohio Department of Health, Columbus, OH, USA.
John MyersCenter for Biostatistics, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA.ORCID http://orcid.org/0000-0003-4874-6066
William J RiggsRegeneron Pharmaceuticals, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-5572-5645
Elizabeth JordanDivision of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA. elizabeth.jordan@osumc.edu.ORCID http://orcid.org/0000-0002-2073-3258

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionIn 50-60% of confirmed congenital hearing loss (HL) diagnoses, the etiology is genetic. The importance of a genetic evaluation for HL is recognized by several national organizations in the United States. This study aimed to evaluate provider practice patterns, beliefs, and knowledge of the role of genetics in the medical diagnosis of HL and assess parent experience and knowledge regarding the role of genetics in the diagnostic process.

methodsTwo surveys were designed using published guidance on optimal care of newborns with HL. Participants included providers (otolaryngologists (ENT) and audiologists) and parents of a newborn with confirmed HL in the state of Ohio from 2017 to 2018.

results95 providers (14 ENT; 81 audiologist) and 39 parent responses were included in the analysis. Only 51% of providers refer for a genetics evaluation (n = 49), and less than 10% order genetic testing (n = 9). However, 96% of providers believe families should be presented with the opportunity to pursue a genetics evaluation. In this study, only 46% (n = 18) of parents reported that they were referred to genetics, and 36% (n = 14) reported that their child had genetic testing for HL. For parentss whose child did not have a genetic evaluation, 53% (n = 17/32) were very likely or likely, 25% (n = 8/32) were unsure, and 22% (n = 7/32) were very unlikely or unlikely to pursue an evaluation.

conclusionThere is inconsistent implementation of guideline directed care for genetic services for HL. As opportunities for gene therapies for HL advance, there is a need to expand access to genetic evaluation for HL.

Indexed as

Genetic servicesGenetic testingHearing lossNewborn hearing screening

Identifiers

PMID40632427
PMCPMC12401789

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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.