Understanding racial and ethnic disparities in diagnostic rates of genetic testing is critical for health equity. We sought to understand the extent and cause of racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing (CGT) for sensorineural hearing loss (SNHL). We performed a retrospective cohort study at two tertiary children’s hospitals on a diverse cohort of 240 consecutive pediatric patients (76% publicly insured, 82% non-White) with SNHL of unknown etiology who underwent CGT. Definite and possible genetic diagnoses were assigned for each patient, representing the likelihood of a genetic cause of hearing loss. Associations between diagnostic rates were examined. 3.8 ± 2.1 variants were detected per patient; this frequency did not vary between White/Asian and Hispanic/Black cohorts. Overall, 82% of variants were variants of uncertain significance (VUS). Compared with White and Asian subjects, variants identified among Hispanic and Black children were less likely to be classified as pathogenic/likely pathogenic (15% vs. 24%, p < 0.001), and Hispanic and Black children were less likely to have a definite genetic diagnosis (10% vs. 37%, p < 0.001). The adjusted odds ratio for definite genetic diagnosis in Black and Hispanic children compared with White and Asian children was 0.19. Expanding genetic diagnostic criteria to include predicted deleterious VUSs reduced these disparities between White/Asian and Hispanic/Black children, with comparable molecular diagnostic rates (41% vs. 38%, p = 0.72). However, in silico predictions are insufficiently valid for clinical use. Increased inclusion of underrepresented groups in genetic hearing-loss studies to clinically validate these variants is necessary to reduce racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing.

No 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.

No abstract

ObjectiveIdentify the age at diagnosis and intervention of immigrant and/or non‐English‐speaking children with hearing loss (HL) and risk factors associated with delays. Identify barriers for non‐English‐speaking caregivers of deaf/hard‐of‐hearing children.Study DesignSequential mixed methods.SettingTertiary care center in an urban city.MethodsThe analysis includes descriptive statistics, and 1‐way and 2‐way analysis of variance of the retrospective chart review. The quantitative study demonstrated foreign‐born experienced disparities, so we conducted semistructured interviews on a subset of non‐English‐speaking families in the cohort that was then thematically analyzed using a human‐centered design strategy.ResultsWe divided 532 children into 3 groups: US‐born with English as the preferred language (N = 294), US‐born and non‐English language preferred (N = 173), and foreign‐born (N = 67). The laterality of HL and pure‐tone averages were similar among the groups (p = .972 and .071, respectively). Age at diagnosis and time to the intervention were significantly different (39.7, 31.5, 75.8 months, p < .001 and 24.6, 29.2, 48.9 months, p = .001, respectively). Ages at diagnosis and intervention were associated with birthplace (p = .005, p = .0005, respectively) but not preferred language (p = .667, p = .343, respectively). Included in the qualitative interviews were Mandarin‐ (n = 5), Arabic‐ (n = 4), and Spanish‐speaking families (n = 3). Insights revealed participants' quest for anticipatory guidance and social support, the consequences of cultural stigma, and the complexity of caring for a child with HL in an immigrant family.ConclusionForeign‐born children with HL have significant delays in diagnosis and intervention compared to US‐born children. For non‐English‐speaking parents, the diagnosis of HL presents challenges beyond that of the immigrant experience.

Objective To evaluate the effect of demographic disparities on language outcomes in a diverse group of children who are deaf or hard of hearing. Study Design Retrospective cohort study. Setting UCSF Benioff Children’s Hospital (a tertiary care center). Methods Forty-four patients aged <18 years were identified with sensorineural hearing loss managed with a behind-the-ear hearing aid or cochlear implant. Demographic and clinical data were extracted from the medical record. The primary outcome measure was the Preschool Language Scales–5 at least 6 months after intervention. Predictors of language outcome were assessed: hearing level at the time of hearing intervention, cochlear implant status, age of identification and intervention, travel time to site of hearing care, home language, race/ethnicity, insurance type, and Access Challenge Index—a novel measure of educational environment and family support based on the Child Cochlear Implant Profile. Multivariate and univariate analysis assessed predictors for association with intervention and receptive, expressive, and total language scores. Results Overall 82% of patients had cochlear implants. The median age at hearing intervention was 12 months. The sample was 59% female, 52% non-White, and 61% publicly insured, and 20% had a non-English primary home language. Accounting for multiple demographic and clinical predictors, a high Access Challenge Index score was independently associated with longer time to intervention ( P = .01) and poorer language outcomes ( P < .001). Conclusion Access Challenge Index—a novel comprehensive measure of educational and family environment—is a strong independent predictor of language outcomes in children who are deaf or hard of hearing.

Objective: To describe risk factors for speech and language delay in a diverse population of children with aural atresia. Methods: Retrospective chart review was performed from 2012 to 2020 at UCSF Benioff Children’s Hospital to identify children with aural atresia evaluated for speech, language, or auditory skills delays. Ninety-five children with aural atresia, conductive hearing loss, and assessment of speech, language, or auditory skills delay were included. Demographic and clinical data were analyzed to identify predictors of speech and language delay. Cohort and case-control analyses were performed to determine risk factors for delayed intervention, and for ultimate delays in speech, language, or auditory skills. Results: Children exhibited a wide diversity of race/ethnicity, primary home language, geography, and insurance status. Eighty-nine percent had unilateral aural atresia. Forty-eight percent had delays in speech, language, or auditory skills. Most children used hearing aids (84%), had educational accommodations (84%), and received speech therapy (63%). In a univariate retrospective cohort analysis, public-insured (p = 0.004), non-English speaking (p = 0.002) and non-white/non-Hispanic children (p = 0.007) were found to be significantly less likely to be fit with hearing aids in infancy. Children with delays were fit with hearing aids at later ages. In a multivariate case-control analysis, primary home language was a significant predictor for presence of delays [OR, 3.9 (95% CI: 1.2–13.2), p = 0.03]. Conclusions: Disparities due to insurance type, primary language, and race/ethnicity are associated with delays in hearing aid fitting for children with aural atresia. Earlier, hearing amplification is correlated with reduced risk for speech, language, and auditory skills delay. These findings can help identify at-risk children for targeted support.

Objective: Clinical guidelines recommend genetic testing when evaluating congenital and late-onset sensorineural hearing loss (SNHL). Genetic diagnoses can provide parents additional information regarding anticipated hearing loss progression, comorbid conditions, and family planning. Additionally, obtaining a genetic diagnosis may increase parental acceptance of hearing loss and subsequent pursuit of intervention. This study evaluates the association between genetic diagnoses and hearing loss intervention.Methods: We included children ages 0-18 years with SNHL who were hearing aid or cochlear implant candidates but non-users and underwent hearing-loss gene panel testing prior to initiating intervention. Univariate analyses were performed to identify predictors of hearing aid fitting or cochlear implantation. Multivariate logistic regression evaluated the impact of demographic and clinical factors on subsequent intervention.Results: Of the 385 children with SNHL who underwent hearing loss gene panel testing, 111 were included. Median age was 7.5 years. 56% were underrepresented minorities, 71% were non-White, and 71% were publicly insured. Those found to have a genetic diagnosis were 4.6 times as likely to subsequently undergo intervention (p = 0.035). Additionally, bilateral hearing loss and earlier age of genetic testing were associated with increased likelihood of intervention.Conclusion: Up to half of children with SNHL are suspected to have an underlying genetic etiology. Children diagnosed with a genetic diagnosis are significantly more likely to subsequently utilize hearing aids or cochlear implantation. This provides additional support for clinical guidelines recommending genetic testing not only due to the impact of prognostication but also on treatment decision-making.