SynthesisHuman genetics2022
Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis.
Synthesis in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Investigation of Vestibular Dysfunction Requires Renewed Research Enthusiasm.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Precision Phenotyping With Audiometric Data and Gene Discovery for Sensorineural Hearing Loss.JAMA otolaryngology-- head & neck surgery · 2026Article
- Novel variant inBMJ case reports · 2025Article
- Disparities in the utilization of genetic testing for non-acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina.Epilepsia open · 2025Article
- The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.European journal of human genetics : EJHG · 2025Article
- VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation.Orphanet journal of rare diseases · 2024Review
- High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.Laryngoscope investigative otolaryngology · 2024Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.Human genetics · 2024Article
- Review
- Article
- Article
- Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.JAMA network open · 2022Article
- The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.Annals of internal medicine · 2022Review
- Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.Human genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Racial/ethnic disparities in the diagnostic efficacy of genetic testing for hearing loss have been described. These disparities may relate to differences in variant classification between different racial/ethnic groups, which may, in turn, derive from disparate representation of these groups in the published literature. We sought to quantify racial/ethnic disparities in the published literature on the human genetics of hearing loss. We conducted a search of PubMed for articles describing single-gene, multiple-gene, or whole-exome sequencing for individuals with sensorineural hearing loss. Data on the included subjects, including race/ethnicity and/or region of origin, a number of subjects tested, and method of testing, were extracted. 1355 populations representing 311,092 subjects from 1165 studies were included. Overall, subjects of European and Asian ancestry were equivalently represented, but those of Latino American, African, and indigenous North American ancestry were significantly underrepresented; over 96% of all subjects in the published literature were European or Asian. Within populations, the majority of subjects derived from a small subset of countries. The observed disparity was greater for multiple-gene and whole-exome sequencing than for single-gene sequencing. These findings illustrate the large disparity in the published literature on the genetics of hearing loss, and demonstrate the need for increased representation of Latino American, African, and indigenous North American populations.
Indexed as
Identifiers
What OpenQuestion holds
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.