The Effect of Sample Type on Genetic Testing Completion in Pediatric Congenital Hearing Loss Patients

The Effect of Sample Type on Genetic Testing Completion in Pediatric Congenital Hearing Loss Patients | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article The Effect of Sample Type on Genetic Testing Completion in Pediatric Congenital Hearing Loss Patients Brittany Adams, Lauren Lichten, Aaliyah Heyward, Nandini Govil This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-6596334/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 24 Jan, 2026 Read the published version in Journal of Community Genetics → Version 1 posted 7 You are reading this latest preprint version Abstract Congenital pediatric hearing loss can be linked to a genetic cause in about 60% of cases. Genetic testing (GT) for this condition can be complicated by the availability of blood draw services and the patient’s amenability to this procedure. The primary objective of this study was to assess whether GT sample collection method influences the completion rate in pediatric patients with congenital, non-syndromic sensorineural hearing loss. This was a retrospective chart review of patients at a tertiary pediatric otolaryngology clinic who had GT ordered through blood draw from May 2022-April 2023 and patients who had GT ordered through buccal swab from June 2023-May 2024. Patients were offered a testing method based on availability at our institution during the time period studied. The primary endpoint was completion of GT. Additional data collected included demographic patient characteristics, average turnaround time for GT completion, and GT results. Each cohort had a GT completion rate of approximately 93%. Almost twice as many patients had GT ordered via buccal swab (148/227) than blood sample (79/227: p < 0.05). There was no difference in GT results between cohorts. The observed similarities in GT completion of the cohorts in this study suggests that barriers to GT completion may not be the sample type alone, but rather a more complex set of factors that may affect family decision-making. Genetic testing Non-syndromic Hearing loss Pediatric Sample type Figures Figure 1 Introduction Congenital hearing loss is one of the most common birth defects with an estimated prevalence of 2 to 3 in 1000 births. Up to 60% of congenital sensorineural hearing loss can be explained by a genetic etiology (Alford et al., 2014 ). Congenital sensorineural hearing loss (SNHL) is further classified into syndromic and non-syndromic causes, with non-syndromic sensorineural hearing loss (NSSNHL) accounting for 80% of hereditary hearing loss (Shave et al., 2022 ). Genetic testing (GT) for families affected with SNHL can provide more information about the condition, as well as anticipatory guidance of comorbidities or disease prognosis and offer insight for the reoccurrence risk of the condition. Parents with children with hearing loss may be overwhelmed by the initial news of their child’s diagnosis. The additional stress of an unanticipated diagnostic odyssey may defer families from further evaluation, such as GT (Lesperance et al., 2018 ). A vital outcome of GT is guidance for treatment and management of hearing loss. Hearing intervention is important in developing the necessary developmental skills in children. Lieu et al. ( 2020 ) found that children with hearing loss experienced worse outcomes in speech, language, education, social functioning, cognitive abilities, and quality of life without interventions such as hearing aids, cochlear implants, and frequency modular systems. A genetic explanation for hearing loss can influence the pursuit of hearing loss treatment, with children diagnosed with a genetic condition being five times more likely to pursue hearing intervention (Brodie et al., 2023 ). The necessity for prompt GT in this patient population is further highlighted by the advent of gene therapy for patients with OTOF- related hearing loss, which has recovered bilateral hearing in 5 patients who had profound hearing loss (Wang et al., 2024 ). The American College of Medical Genetics and Genomics (ACMG) published a practice guideline for the evaluation and diagnosis of hearing loss (Alford et al., 2014 ). In this guideline, ACMG recommends that all newborns and infants with hearing loss should undergo a comprehensive assessment that includes the medical and birth history of the patient, family medical history, and a three-generation pedigree. For patients with suspected NSSNHL, single gene GT can be ordered if family history or the hearing loss presentation suggests a specific etiology. More comprehensive GT, such as next-generation sequencing panels, should be ordered if initial GT is negative. The need for genetic counseling, both pre-test and post-test, is also incorporated in the ACMG guideline (Alford et al., 2014 ). Genetic counseling improves parental understanding of genetic hearing loss when compared to a genetics discussion provided by a pediatric otolaryngologist (Davis et al., 2021 ). This may be due to the restricted time otolaryngologists have to facilitate a genetics discussion or limited knowledge of genetics. Heyward et al. ( 2023 ) found that otolaryngologists preferred to refer patients to genetics services and additional resources are needed for these providers to facilitate GT in their clinics. When GT is indicated, samples can be collected via blood draw or saliva samples, which may involve a buccal swab or saliva collection devices. Buccal swabs involve sweeping each cheek with a sponge tipped swab to collect sufficient sample, while saliva collection devices require 1–2 mL of saliva dispensed into a tube by the patient. For pediatric patients, procedures such as venipuncture may cause pain and distress (Carmichael et al., 2015 ). Alternatively, buccal swabs can provide a non-invasive solution to the psychological concerns that blood draws may elicit for patients and their families, and is less difficult to obtain for infants and children than other alternatives to blood samples. Additional support for the use of saliva-based samples over blood samples was found by Bruinsma et al. ( 2018 ) where the DNA yield can be higher from saliva samples than DNA yield from blood samples. In this study, we aimed to identify whether a change in clinic workflow from collecting blood samples for GT to collecting buccal swabs affects the completion of GT in patients with congenital NSSNHL. This work is the first of its kind to evaluate whether the sample type influences genetic testing completion in any patient population. Methods Study design & IRB statement This study was approved by the Children’s Healthcare of Atlanta Institutional Review Board (STUDY 00002011). A retrospective chart review was carried out at all locations of Children’s Healthcare of Atlanta (CHOA) pediatric otolaryngology clinic with prior identification of subjects through a commercial laboratory provider portal. CHOA is Georgia’s primary pediatric healthcare provider with 3 hospitals and multiple satellite locations. The CHOA Hearing Loss multidisciplinary program has approximately 13,000 audiology encounters per year and places 75 cochlear implants annually. The multidisciplinary team includes audiologists, ENTs and speech therapists who provide comprehensive care to this patient population. The commercial laboratory used to identify subjects is the only laboratory that was used for GT throughout the study. This laboratory offers a hearing loss panel that includes 146 nuclear genes and 6 variants in 4 mitochondrial genes related to syndromic and non-syndromic forms of hearing loss. All patients who had GT ordered from May 2022-April 2023 and June 2023-May 2024 who met our inclusion criteria were captured in this chart review. From May 2022-April 2023, blood samples were collected for GT. In May of 2023, the clinic switched to saliva samples for GT and the time period from June 2023-May 2024 reflects patients who had GT via buccal swab. May 2023 was excluded from this study since this was the time that collection method changed in clinic and thus clinic flow was still being developed. The difference in the sample size for each cohort reflects an increase in clinic volume over time rather than differences in the inclusion criteria. Participants The subjects of this study were identified via a commercial laboratory provider portal, which records all CHOA patients who had GT with the laboratory. Subjects were subsequently assessed via chart review to ensure they met the study inclusion criteria. We included patients ages 0–18 at the time of GT who were diagnosed with NSSNHL. Patients who had acquired, mixed or conductive hearing loss, and syndromic hearing loss were excluded. Acquired hearing loss was defined by hearing loss that could be attributed to a known cause, such as congenital cytomegalovirus infection or other TORCH exposures. Syndromic hearing loss was defined as a documented presence of dysmorphic features or a known syndrome. Patients who had GT in May 2022-April 2023 who had a sample collection type other than blood in ethylenediaminetetraacetic acid were excluded. Patients who underwent a blood draw for GT at CHOA may have had to travel to another facility in order to complete this order as blood draw services were not always available for patients in the same building as their otolaryngology appointment. Patients who had GT in June 2023-May 2024 who had a sample type other than OraCollect Buccal were excluded. Instruments After identification of subjects in the commercial laboratory provider portal and confirming they met our inclusion criteria, data for this study was stored in Children’s Healthcare of Atlanta’s Research Electronic Data Capture (REDCap), a secure web platform for building and managing online databases and surveys. Procedures We initially identified subjects for this study in the commercial laboratory provider portal by using the filter tool to isolate patients who had GT ordered within the month and year relevant to this study. Patients who received GT with CHOA are referred by their otolaryngologist to a genetic counselor for pre-test counseling with the laboratory’s genetic counseling services. Patients may choose whether to undergo pre-test genetic counseling prior to obtaining their GT results and have the option of pursuing post-test counseling to review GT results in detail. Some patients experience a delay in the receipt of GT results if the family is unreachable for genetic counseling or if their insurance plan requires a prior authorization for GT. Patients chose whether to undergo pre-test or post-test genetic counseling, but both options were available to every patient. Once the subjects were identified, an initial chart review was done to assess whether the patient met the inclusion criteria. For patients who did meet inclusion criteria, the following data was collected via chart review in the electronic medical record system and recorded in REDCap: medical record number, sex assigned at birth, age when GT was ordered, race/ethnicity, laterality of hearing loss, degree of hearing loss, zip code, insurance type, term at birth, the presence of family history of hearing loss, the presence of a comorbidity and comorbidity type, preferred language, GT completion status and reason for incompletion (if applicable), GT results, and the turnaround time from GT ordered to GT completed. The degree of hearing loss was collected by calculating the pure tone average (PTA) and by collecting the speech awareness threshold (SAT) or speech recognition threshold (SRT). These data points were collected from either pure-tone testing or auditory brainstem response testing. PTA is calculated by averaging the hearing sensitivity at 500, 1000, 2000, and 4000 Hz. Where only three of these sensitivity values were available, the average was calculated across those three values. These values were then used to classify the hearing loss as normal (o-25dB0, mild (20-40dB), moderate (41-55dB), moderately-severe (56-70dB), severe (71-90dB), or profound (> 90dB) (Clark, 1981). In cases with asymmetric hearing loss, the worse hearing ear was used. Zip code was collected to use in the Opportunity Index website to ascertain median annual household income, and median annual household income was used to determine socioeconomic status. Insurance type was collected as private, public, or no coverage. Term at birth was defined as premature (< 37 weeks 0 days gestation) or full term (≥ 37 weeks gestation). Once data collection was complete, all data was de-identified and exported to Microsoft Excel. In Microsoft Excel, the zip code data point was transformed to socioeconomic status. Statistical Analyses IBM Statistical Product and Service Solutions (SPSS) was used to analyze the data. Descriptive analysis was performed. To test our main outcome, we performed a chi-square test to analyze whether there was a difference in GT completion between the group who had GT via blood and the group who had GT via buccal swab. A binomial test of proportion was used to test a significant difference between the sample size of each cohort. Demographics were compared between the blood sample group and buccal swab group using chi-square, Fisher-Freeman-Halton, and independent sample median tests. Chi-square tests were used when comparing two categorical variables. The Fisher-Freeman-Halton test was used when the sample size was small in a comparison between two categorical variables. The independent sample median test was used to compare GT turnaround times. A binary logistic regression between the demographic characteristics and GT cohort was performed to identify factors other than sample type that may contribute to GT completion. A p-value less than 0.05 was used to determine statistical significance. Results In total, 227 patients met our inclusion criteria and had a GT order placed. The blood draw cohort consisted of 79 patients, of whom 74 completed genetic testing. The buccal swab cohort consisted of 148 patients, of whom 138 completed genetic testing (Table 1 ). A total of 50 patients were excluded from the blood draw cohort but had genetic testing ordered: 4 patients had congenital cytomegalovirus infection, 17 patients were parents of children with hearing loss, 25 patients had non-SNHL, 1 patient had syndromic hearing loss, 2 patients were over the age of 18 at the time of GT, and 1 patient received GT through the incorrect sample type for the cohort. In the buccal swab cohort, 110 patients were excluded but had genetic testing ordered: 2 patients had congenital cytomegalovirus infection, 1 patient had congenital Zika infection, 30 patients were parents of children with hearing loss, 65 patients had non-SNHL, 5 patients had syndromic hearing loss, 1 patient was over the age of 18 at the time of GT, and 5 patients received GT through the incorrect sample type for the cohort. The cohorts were mostly publicly insured (67.1% blood draw, 56% buccal swab) and patients with bilateral hearing loss (64.6% blood draw, 73% buccal swab). Patients in both cohorts also had similar rates of GT completion, lack of family history of hearing loss, and lack of comorbidities. Families that were included in this study and did not ultimately complete GT (5 patients in the blood draw cohort and 10 patients in the buccal swab cohort) most often were cited to have canceled testing at the billing stage via the commercial laboratory provider portal. The two cohorts had marked differences in sample size (p < 0.001) where almost twice as many individuals were included in the buccal swab cohort than the blood draw cohort. This difference in sample size reflects the increased clinic volume in the later time period. Individuals in the buccal swab cohort were most likely to undergo genetic evaluation at age 6–18 years than their counterparts in the blood draw cohort (p < 0.05). The buccal swab cohort had more White (p < 0.05), Black/African American (p < 0.05), and individuals of other race or ethnicity (p < 0.05) than the blood draw cohort. Table 1 Demographic Information Blood Draw Buccal Swab p Total n/N (%) 79/227 (34.8) 148/227 (65.2) < 0.001 a Genetic testing completion 1.0 b Yes 74 (93.7) 138 (93.2) No 5 (6.3) 10 (6.8) Sex Assigned at Birth 0.268 b Male 44 (55.7) 71 (48) Female 35 (44.3) 77 (52) Age at genetic evaluation 0.025 b 0-1 years 21 (26.6) 34 (23) 1–6 years 27 (34.2) 30 (20.3) 6–18 years 31 (39.2) 84 (56.7) Race/Ethnicity e White 30 (38) 82 (55) 0.018 b Black/African American 39 (49) 51 (34) 0.033 b Hispanic/Latino 23 (29) 31 (21) 0.192 b Other f 1 (1) 12 (8) 0.035 b Preferred language 0.934 c English 70 (88.6) 120 (81) Spanish 8 (10.1) 17 (11.5) ASL 1 (1.3) 5 (3.4) Other 0 (0) 6 (4.1) Socioeconomic status 0.230 b Lower-middle class ( $ 30,001 – $ 58,020) 68 (86) 135 (91.2) Middle class ( $ 58,021 – $ 94,000) 11 (14) 13 (8.8) Insurance type 0.196 b Public 53 (67.1) 83 (56) Private 22 (27.8) 59 (40) No coverage 4 (5.1) 6 (4) Term at birth 0.661 b Premature 15 (19) 28 (19) Full term 59 (74.7) 115 (77.7) Unsure 5 (6.3) 5 (3.3) NBHS status 0.302 b Fail 39 (49.4) 57 (38.5) Pass 34 (43) 76 (51.4) Unsure 6 (7.6) 15 (10.1) Laterality of hearing loss 0.357 b Unilateral- left 14 (17.7) 17 (11.5) Unilateral- right 14 (17.7) 23 (15.5) Bilateral 51 (64.6) 108 (73) Severity of hearing loss in worst ear (SRT/SAT) 0.073 b Normal (0-25dB) 2 (2.5) 11 (7.4) Mild (20-40dB) 27 (34.2) 54 (36.5) Moderate (41-55dB) 9 (11.4) 21 (14.2) Moderate severe (56-70dB) 16 (20.3) 12 (8.1) Severe (71-90dB) 8 (10.1) 23 (15.6) Profound (> 90dB) 17 (21.5) 27 (18.2) Presence of a comorbidity 0.748 b Yes 18 (22.8) 37 (25) No 61 (77.2) 111 (75) Family history of hearing loss 0.973 b Yes 25 (31.6) 45 (30.4) No 49 (62) 93 (62.8) Unsure 5 (6.4) 10 (6.8) Genetic testing turnaround time 38 days 42 days 0.035 d a Binomial test of proportion p-value, b Chi-square p-value, c Fisher-Freeman-Halton p-value, d Independent samples median p-value e Some participants of this study identified with more than one racial/ethnic group. f Other encompasses participants that identified as American Indian or Alaska Native, Native Hawaiian or Other Pacific Islander, or Asian. GT turnaround time had a median of 38 days in the blood draw cohort and 42 days in the buccal swab cohort (p < 0.05). Patients who underwent GT via blood draw had a median of 10.3 days of delay between the provider ordering a laboratory visit for blood sample collection and when the patient presented for sample collection. Patients who underwent GT via buccal swab did not experience a delay in sample collection as the sample was collected during the same otolaryngology visit at which the test was ordered. Diagnoses that were discovered after GT was completed are included in Table 2 . Table 2 Genetic Diagnoses by Cohort Diagnosis Blood Draw Buccal Swab CHARGE syndrome 1 0 STRC- related hearing loss 3 2 ACTG1 -related disorder 1 0 DFNB3 autosomal recessive non-syndromic sensorineural hearing loss 1 0 PDZD7 -related non-syndromic hearing loss 1 3 GJB2 -related non syndromic hearing loss 6 11 MYO15A -related non-syndromic hearing loss 1 1 TPRN -related hearing loss 1 0 Usher syndrome ( MYO7A ) 1 0 Muenke syndrome 0 1 Klinefelter syndrome 1 0 SMPX -related non-syndromic hearing loss 1 0 SLITRK6 -related hearing loss and myopia 1 0 Hereditary neuropathy with liability to pressure palsies a 0 1 TMPRSS3 -related hearing loss 0 1 Alport syndrome 0 1 Autosomal recessive non-syndromic male infertility b 0 1 MITF -related Waardenburg spectrum disorder 0 1 MYO7A -related hearing loss 0 1 TECTA -related disorder 0 1 Total 19 25 a One patient was diagnosed with GJB2 -related non syndromic hearing loss and hereditary neuropathy with liability to pressure palsies in the buccal swab cohort. b A second patient was diagnosed with STRC -related hearing loss and autosomal recessive non-syndromic male infertility in the buccal swab cohort. In a comparison between the types of genetic testing results received, both groups had a 5% negative result rate and similar rates of positive GT results (4% blood draw, 5% buccal swab). Patients in the blood draw group had more positive genetic testing and variant of uncertain significance (VUS) results (42%), while the buccal swab group had this result in 27% of cases. Patients in the buccal swab group had more VUS only results (63%) than patients in the blood draw group (49%). These results are depicted in Fig. 1 . a. Blood draw (n = 74, 93.7%) b. Buccal swab (n = 138, 93.2%) Binary logistic regression was used by this study to ascertain the effects of the demographic variables on the likelihood that patients completed GT via buccal swab compared to the blood draw cohort. Based on the results presented in Table 3 , patient race/ethnicity and severity of hearing loss were revealed to be significant predictive factors. More patients who identified as White (p < 0.05) had a GT ordered in the buccal swab cohort compared to the blood draw cohort as indicated by the odds ratio (OR) of 7.306. Additionally, patients identifying as a race/ethnicity other than White, Black/African American, or Hispanic/Latino (this includes Native American or Alaska Native, Native Hawaiian or Other Pacific Islander, and Asian) descent (p < 0.05) underwent GT in the buccal swab cohort more than the blood draw cohort (OR = 42.687). Patients with moderately severe hearing loss underwent GT less via buccal swab when compared to blood draw (p < 0.05, OR = 0.053). The logistic regression model was statistically significant χ2 (27) = 59.770, p < 0.001. The model explains 33.9% (Nagelkerke R 2 ) of the variance between cohorts and correctly classified 73.1% of cases. Table 3 Binary logistic regression analysis outcomes Variable P-value OR (95% CI) Female (reference is male) 0.466 0.766 (0.374–1.569) > 1–6 years 0.217 0.544 (0.207–1.429) > 6–18 years 0.380 1.584 (0.567–4.5424) White 0.017* 7.306 (1.418–37.646) Black/African American 0.213 3.122 (0.521–18.708) Hispanic/Latino 0.91 0.404 (0.141–1.158) Other race/ethnicity 0.006* 42.687 (2.862–636.75) Spanish Speaking (preferred primary language) 0.066 4.859 (0.898–26.281) Other language 0.110 6.955 (0.645–75.008) Middle class ( $ 58,021 – $ 94,000) 0.119 0.383 (0.114–1.282) Private insurance 0.400 1.434 (0.620–3.316) No coverage 0.958 1.045 (0.200-5.448) Full term 0.443 1.403 (0.590–3.333) Unsure of birth term 0.089 0.147 (0.016–1.338) Pass NBS 0.220 1.721 (0.723–4.099) Unsure NBS 0.438 1.831 (0.3970–8.455) Unilateral hearing loss- right 0.082 3.095 (0.967–11.054) Bilateral hearing loss 0.055 2.675 (0.981–7.295) Mild (20-40dB) 0.236 0.250 (0.025–2.471) Moderate (41-55dB) 0.718 0.633 (0.053–7.534) Moderate severe (56-70dB) 0.017* 0.053 (0.005–0.592) Severe (71-90dB) 0.361 0.327 (0.030–3.606) Profound (> 90dB) 0.171 0.186 (0.017–2.062) No comorbidity 0.431 1.424 (0.591–3.432) No family history 0.649 0.833 (0.379–1.831) Unsure of family history 0.664 1.526 (.227-10.266) Genetic testing turnaround time 0.230 1.008 (0.995–1.022) OR odds ratio, CI confidence interval * p < 0.05 Discussion To our knowledge, this is the first study to assess the GT completion between different sample collection methods in a single patient population. Previous research has stated that the DNA yield in saliva samples is comparable to DNA yield in blood samples (Abraham et al., 2012 ; Bruinsma et al., 2018 ; Hu et al., 2012 ). In similar time periods, the rate of GT was similar between patients who were offered a blood draw and those who were offered a buccal swab. Literature has suggested that families undergoing a hearing loss diagnostic odyssey postpone or decline GT due to the added stress of another procedure in their journey (Carmichael et al., 2015 ; Lesperance et al., 2018 ). The observed similarities in GT completion of the cohorts in this study suggests that barriers to GT completion may not be the sample type alone, but rather a more complex set of factors that may affect family decision-making. An interesting finding in our study was that the patients who underwent GT by buccal swab had longer turnaround times from sample collection to results compared to patients who underwent testing by blood draw. A possible explanation for the increased turnaround time for the buccal swab cohort may be the higher rates of private insurance among these patients when compared to the blood draw cohort. Private insurances frequently require prior authorizations for GT for coverage of this service. This finding was also surprising given that there is a median of 10.3 days of delay between the provider ordering a laboratory visit for a blood sample and when the patient presented for sample collection. The delay in blood draw collection can be attributed a variety of factors, including a lack of blood draw services in some CHOA facilities that cause patients to present to a different facility for GT, patients' reluctance to undergo a blood draw, or the earlier closing time of some laboratories, which may prevent patients seen during late afternoon appointments from completing the blood draw on the same day. GT revealed diagnoses in both cohorts that were related to syndromic and non-syndromic causes of hearing loss. These diagnoses provide insightful information for families who choose to undergo GT. Literature suggests that parents and caretakers of children with hearing loss may choose to have their child undergo GT for a variety of reasons. These include reaching an accurate diagnosis, providing anticipatory guidance on prognosis, and accessing support services and support groups (Carmichael et al., 2015 ; Clark et al., 2024 ; Palmer et al., 2009 ). However, families who undergo GT for their child’s hearing loss also report limited understanding of these results (Cejas et al., 2024 ; Davis et al., 2021 ). Genetics professionals such as genetic counselors and geneticists are best equipped with the knowledge to interpret these results, but the clinical genetics workforce is experiencing a shortage (Jenkins et al., 2021 ). Otolaryngologists report hesitancies in explaining GT results to their patients and a preference for referring to a genetics professional for GT (Heyward et al., 2023 ). This highlights the increasing need for genetics professionals to support this patient population, particularly when GT results reveal VUS, which present unique challenges in interpretation and counseling for non-genetics providers. Patients in these cohorts were diagnosed with a variety of syndromic and non-syndromic SNHL etiologies through GT. There were also many patients who received VUS results. ACMG and the Association for Molecular Pathology published professional guidelines that state that VUS results do not meet the standards for benign or pathogenic classification (Richards et al., 2015 ). Further clarification from the Clinical Genome Resource indicate that VUS results fall into the 10%-90% confidence of pathogenicity where likely pathogenic and pathogenic results reflect a 90%-99% confidence of pathogenicity and likely benign and benign results reflect a 0%-10% confidence of pathogenicity (Tavtigian et al., 2018 ; Tavtigian et al., 2020 ). Historically, individuals of non-European descent are underrepresented in genetic studies, which contributes to high rates of uncertain results in more diverse population cohorts (Florentine et al., 2022 ; Gudmundsson et al., 2022 ). Our study had representation of diverse racial and ethnic backgrounds, which may have contributed to the high rates of VUS found in both cohorts. Limitations The main limitation of this study is that it could not assess patients who had been offered genetic testing and declined as they would not have had an order placed in the commercial laboratory provider portal. This study also cannot account for provider variability in offering GT. Some providers may have begun offering testing during the study that did not previously order GT in an earlier time period, and it is possible that providers’ tendency to offer GT to this patient population fluctuated over time. Additionally, the difference in sample sizes between the cohorts resulted from an increase in clinic encounters over time. While this could reflect broader trends in referral or diagnosis practices, both cohorts were subject to the same inclusion criteria, minimizing potential selection bias in this area. There may be selection bias in the time periods chosen in this study as the study may not be representative of the GT completion of these patients as a whole and only offer a glimpse in the time periods we choose. Selection bias may also come from the specific inclusion criteria of congenital NSSNHL. There may be under coverage bias if the individuals who chose to undergo GT are not representative of the broader population of patients with congenital NSSNHL. Also, due to the retrospective nature of this study, we cannot define a direct causation between sample method and GT completion. In the logistic regression analysis, statistical significance was reached when certain demographic characteristics were overrepresented or underrepresented in the buccal swab cohort when compared to the blood draw cohort. The findings of our logistic regression may be explained by the difference in sample size for each cohort and resultant class imbalance. Future Research This study did not find a difference in GT completion between two sample types. Future research could focus qualitatively on families who received GT through blood draw and those who received GT through buccal swab to assess their lived experiences. Further insights may also be gained by focusing on the decision making of families who chose to decline genetic testing to assess how the GT process may be adjusted for families who experience distress and alleviate additional hardship. Conclusion This study is the first to compare genetic testing completion rates based on sample collection method within a single patient population. The similar rates of test completion between the blood draw and buccal swab groups suggest that factors beyond sample type, such as broader family decision-making dynamics, may play a more significant role in testing uptake. Declarations Ethical approval This retrospective chart review study involving human participants was in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The IRB of Children’s Healthcare of Atlanta approved this study. Conflict of Interest The authors declare that they have no conflict of interest. Funding This research did not receive any specific grant from any funding agency in the public, commercial, or not-for-profit sectors. Author Contribution B. A.and N.G. contributed to the study conception and all authors contributed to the study design. Data collection and analysis was performed by B.A. The first draft of the manuscript was written by B.A. and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript. Acknowledgement The study team would like to thank Hannah Waddel, PhD for providing consulting assistance with the statistical analyses performed in this study. Data availability The authors confirm that the data supporting the findings of this study are available within the article and its supplementary materials. 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J Genet Couns 30(5):1379–1387. https://doi.org/10.1002/jgc4.1404 Florentine MM, Rouse SL, Stephans J, Conrad D, Czechowicz J, Matthews IR, Meyer AK, Nadaraja GS, Parikh R, Virbalas J, Weinstein JE, Chan DK (2022) Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss. Hum Genet 141(3–4):495–504. https://doi.org/10.1007/s00439-021-02338-4 Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M, Genome Aggregation Database C, Rehm HL, MacArthur DG, O'Donnell-Luria A (2022) Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat 43(8):1012–1030. https://doi.org/10.1002/humu.24309 Heyward A, Hagerty K, Lichten L, Howell J, Tey CS, Dedhia K, Kavalieratos D, Govil N (2023) The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation. J Community Genet 14(4):377–385. https://doi.org/10.1007/s12687-023-00649-9 Hu Y, Ehli EA, Nelson K, Bohlen K, Lynch C, Huizenga P, Kittlelsrud J, Soundy TJ, Davies GE (2012) Genotyping performance between saliva and blood-derived genomic DNAs on the DMET array: a comparison. PLoS ONE 7(3):e33968. https://doi.org/10.1371/journal.pone.0033968 Jenkins BD, Fischer CG, Polito CA, Maiese DR, Keehn AS, Lyon M, Edick MJ, Taylor MRG, Andersson HC, Bodurtha JN, Blitzer MG, Muenke M, Watson MS (2021) The 2019 US medical genetics workforce: a focus on clinical genetics. Genet Med 23(8):1458–1464. https://doi.org/10.1038/s41436-021-01162-5 Lesperance MM, Winkler E, Melendez TL, Yashar BM (2018) My Plate is Full: Reasons for Declining a Genetic Evaluation of Hearing Loss. J Genet Couns 27(3):597–607. https://doi.org/10.1007/s10897-017-0149-9 Lieu JEC, Kenna M, Anne S, Davidson L (2020) Hearing Loss in Children: A Review. JAMA 324(21):2195–2205. https://doi.org/10.1001/jama.2020.17647 Palmer CG, Martinez A, Fox M, Zhou J, Shapiro N, Sininger Y, Grody WW, Schimmenti LA (2009) A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants. Am J Med Genet A 149A(6):1169–1182. https://doi.org/10.1002/ajmg.a.32853 Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Committee AL (2015) Q. A. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med , 17 (5), 405–424. https://doi.org/10.1038/gim.2015.30 Shave S, Botti C, Kwong K (2022) Congenital Sensorineural Hearing Loss. Pediatr Clin North Am 69(2):221–234. https://doi.org/10.1016/j.pcl.2021.12.006 Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG (2018) Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genet Med 20(9):1054–1060. https://doi.org/10.1038/gim.2017.210 . & ClinGen Sequence Variant Interpretation Working Tavtigian SV, Harrison SM, Boucher KM, Biesecker LG (2020) Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines. Hum Mutat 41(10):1734–1737. https://doi.org/10.1002/humu.24088 Wang H, Chen Y, Lv J, Cheng X, Cao Q, Wang D, Zhang L, Zhu B, Shen M, Xu C, Xun M, Wang Z, Tang H, Hu S, Cui C, Jiang L, Yin Y, Guo L, Zhou Y, Shu Y (2024) Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results. Nat Med 30(7):1898–1904. https://doi.org/10.1038/s41591-024-03023-5 Additional Declarations No competing interests reported. Cite Share Download PDF Status: Published Journal Publication published 24 Jan, 2026 Read the published version in Journal of Community Genetics → Version 1 posted Editorial decision: Revision requested 23 Sep, 2025 Reviews received at journal 02 Jul, 2025 Reviewers agreed at journal 04 Jun, 2025 Reviewers invited by journal 09 May, 2025 Editor assigned by journal 09 May, 2025 Submission checks completed at journal 09 May, 2025 First submitted to journal 05 May, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-6596334","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":455606521,"identity":"c4e1a865-773c-4bea-b510-b3833355c96b","order_by":0,"name":"Brittany Adams","email":"","orcid":"","institution":"Emory University","correspondingAuthor":false,"prefix":"","firstName":"Brittany","middleName":"","lastName":"Adams","suffix":""},{"id":455606522,"identity":"792e2db2-95b8-481d-bd6c-a829d35f978d","order_by":1,"name":"Lauren Lichten","email":"","orcid":"","institution":"Emory University","correspondingAuthor":false,"prefix":"","firstName":"Lauren","middleName":"","lastName":"Lichten","suffix":""},{"id":455606523,"identity":"a5ae874b-e7d2-4eb3-a6bf-40f30d33ea4d","order_by":2,"name":"Aaliyah Heyward","email":"","orcid":"","institution":"Ochsner Health System","correspondingAuthor":false,"prefix":"","firstName":"Aaliyah","middleName":"","lastName":"Heyward","suffix":""},{"id":455606524,"identity":"2000f8c4-0ed0-4ae6-b1d8-a8ad44463417","order_by":3,"name":"Nandini Govil","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA6klEQVRIiWNgGAWjYJACiQQGCTDjwIMKmBgbsVoSzhCrBc5KbCNCizn72YM3Hu6wYJB37zE8kDjPJppf+owBw4eywzi1WPbkJVsknpFgMDxzxuBA4ra03Jl9OQaMM87h1mJwIMdMIrENqGVGWgJQy+HcDWd4DJh52/BoOf8GWcuc/xAtf/FpuQG1RV4i+cCBxIYDEC2MeLW8MbYAauEx4Dl84EDCseTcmT1sBQd7zqXjcViO4c2fbXVy8u2NzR8+1Njl9vMwb3zwo8wapxYY4DE4AGdzILHxAfkGOJP9AVE6RsEoGAWjYMQAAN7PWdRdQqrEAAAAAElFTkSuQmCC","orcid":"","institution":"Emory University","correspondingAuthor":true,"prefix":"","firstName":"Nandini","middleName":"","lastName":"Govil","suffix":""}],"badges":[],"createdAt":"2025-05-05 17:08:11","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-6596334/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-6596334/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1007/s12687-025-00834-y","type":"published","date":"2026-01-24T15:59:13+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":82793893,"identity":"ec7ee876-b16b-4538-965e-ecf2a6c2da4f","added_by":"auto","created_at":"2025-05-15 10:27:35","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":42249,"visible":true,"origin":"","legend":"\u003cp\u003eComparison of Genetic Testing Results Between Groups\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-6596334/v1/fa52f26e513a467e8f38f41e.png"},{"id":101151973,"identity":"be839df3-7370-4873-a595-4efba72860d6","added_by":"auto","created_at":"2026-01-26 16:08:53","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":761654,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6596334/v1/08726c7c-7313-48a8-93b1-58e522db5f2c.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"The Effect of Sample Type on Genetic Testing Completion in Pediatric Congenital Hearing Loss Patients","fulltext":[{"header":"Introduction","content":"\u003cp\u003eCongenital hearing loss is one of the most common birth defects with an estimated prevalence of 2 to 3 in 1000 births. Up to 60% of congenital sensorineural hearing loss can be explained by a genetic etiology (Alford et al., \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2014\u003c/span\u003e). Congenital sensorineural hearing loss (SNHL) is further classified into syndromic and non-syndromic causes, with non-syndromic sensorineural hearing loss (NSSNHL) accounting for 80% of hereditary hearing loss (Shave et al., \u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). Genetic testing (GT) for families affected with SNHL can provide more information about the condition, as well as anticipatory guidance of comorbidities or disease prognosis and offer insight for the reoccurrence risk of the condition. Parents with children with hearing loss may be overwhelmed by the initial news of their child\u0026rsquo;s diagnosis. The additional stress of an unanticipated diagnostic odyssey may defer families from further evaluation, such as GT (Lesperance et al., \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e2018\u003c/span\u003e). A vital outcome of GT is guidance for treatment and management of hearing loss. Hearing intervention is important in developing the necessary developmental skills in children. Lieu et al. (\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e2020\u003c/span\u003e) found that children with hearing loss experienced worse outcomes in speech, language, education, social functioning, cognitive abilities, and quality of life without interventions such as hearing aids, cochlear implants, and frequency modular systems. A genetic explanation for hearing loss can influence the pursuit of hearing loss treatment, with children diagnosed with a genetic condition being five times more likely to pursue hearing intervention (Brodie et al., \u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e2023\u003c/span\u003e). The necessity for prompt GT in this patient population is further highlighted by the advent of gene therapy for patients with \u003cem\u003eOTOF-\u003c/em\u003erelated hearing loss, which has recovered bilateral hearing in 5 patients who had profound hearing loss (Wang et al., \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e2024\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eThe American College of Medical Genetics and Genomics (ACMG) published a practice guideline for the evaluation and diagnosis of hearing loss (Alford et al., \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2014\u003c/span\u003e). In this guideline, ACMG recommends that all newborns and infants with hearing loss should undergo a comprehensive assessment that includes the medical and birth history of the patient, family medical history, and a three-generation pedigree. For patients with suspected NSSNHL, single gene GT can be ordered if family history or the hearing loss presentation suggests a specific etiology. More comprehensive GT, such as next-generation sequencing panels, should be ordered if initial GT is negative. The need for genetic counseling, both pre-test and post-test, is also incorporated in the ACMG guideline (Alford et al., \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2014\u003c/span\u003e). Genetic counseling improves parental understanding of genetic hearing loss when compared to a genetics discussion provided by a pediatric otolaryngologist (Davis et al., \u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e2021\u003c/span\u003e). This may be due to the restricted time otolaryngologists have to facilitate a genetics discussion or limited knowledge of genetics. Heyward et al. (\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e2023\u003c/span\u003e) found that otolaryngologists preferred to refer patients to genetics services and additional resources are needed for these providers to facilitate GT in their clinics.\u003c/p\u003e \u003cp\u003eWhen GT is indicated, samples can be collected via blood draw or saliva samples, which may involve a buccal swab or saliva collection devices. Buccal swabs involve sweeping each cheek with a sponge tipped swab to collect sufficient sample, while saliva collection devices require 1\u0026ndash;2 mL of saliva dispensed into a tube by the patient. For pediatric patients, procedures such as venipuncture may cause pain and distress (Carmichael et al., \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e2015\u003c/span\u003e). Alternatively, buccal swabs can provide a non-invasive solution to the psychological concerns that blood draws may elicit for patients and their families, and is less difficult to obtain for infants and children than other alternatives to blood samples. Additional support for the use of saliva-based samples over blood samples was found by Bruinsma et al. (\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e2018\u003c/span\u003e) where the DNA yield can be higher from saliva samples than DNA yield from blood samples. In this study, we aimed to identify whether a change in clinic workflow from collecting blood samples for GT to collecting buccal swabs affects the completion of GT in patients with congenital NSSNHL. This work is the first of its kind to evaluate whether the sample type influences genetic testing completion in any patient population.\u003c/p\u003e"},{"header":"Methods","content":"\u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eStudy design \u0026amp; IRB statement\u003c/h2\u003e \u003cp\u003eThis study was approved by the Children\u0026rsquo;s Healthcare of Atlanta Institutional Review Board (STUDY 00002011). A retrospective chart review was carried out at all locations of Children\u0026rsquo;s Healthcare of Atlanta (CHOA) pediatric otolaryngology clinic with prior identification of subjects through a commercial laboratory provider portal. CHOA is Georgia\u0026rsquo;s primary pediatric healthcare provider with 3 hospitals and multiple satellite locations. The CHOA Hearing Loss multidisciplinary program has approximately 13,000 audiology encounters per year and places 75 cochlear implants annually. The multidisciplinary team includes audiologists, ENTs and speech therapists who provide comprehensive care to this patient population. The commercial laboratory used to identify subjects is the only laboratory that was used for GT throughout the study. This laboratory offers a hearing loss panel that includes 146 nuclear genes and 6 variants in 4 mitochondrial genes related to syndromic and non-syndromic forms of hearing loss. All patients who had GT ordered from May 2022-April 2023 and June 2023-May 2024 who met our inclusion criteria were captured in this chart review. From May 2022-April 2023, blood samples were collected for GT. In May of 2023, the clinic switched to saliva samples for GT and the time period from June 2023-May 2024 reflects patients who had GT via buccal swab. May 2023 was excluded from this study since this was the time that collection method changed in clinic and thus clinic flow was still being developed. The difference in the sample size for each cohort reflects an increase in clinic volume over time rather than differences in the inclusion criteria.\u003c/p\u003e \u003c/div\u003e\n\u003ch3\u003eParticipants\u003c/h3\u003e\n\u003cp\u003eThe subjects of this study were identified via a commercial laboratory provider portal, which records all CHOA patients who had GT with the laboratory. Subjects were subsequently assessed via chart review to ensure they met the study inclusion criteria. We included patients ages 0\u0026ndash;18 at the time of GT who were diagnosed with NSSNHL. Patients who had acquired, mixed or conductive hearing loss, and syndromic hearing loss were excluded. Acquired hearing loss was defined by hearing loss that could be attributed to a known cause, such as congenital cytomegalovirus infection or other TORCH exposures. Syndromic hearing loss was defined as a documented presence of dysmorphic features or a known syndrome. Patients who had GT in May 2022-April 2023 who had a sample collection type other than blood in ethylenediaminetetraacetic acid were excluded. Patients who underwent a blood draw for GT at CHOA may have had to travel to another facility in order to complete this order as blood draw services were not always available for patients in the same building as their otolaryngology appointment. Patients who had GT in June 2023-May 2024 who had a sample type other than OraCollect Buccal were excluded.\u003c/p\u003e\n\u003ch3\u003eInstruments\u003c/h3\u003e\n\u003cp\u003eAfter identification of subjects in the commercial laboratory provider portal and confirming they met our inclusion criteria, data for this study was stored in Children\u0026rsquo;s Healthcare of Atlanta\u0026rsquo;s Research Electronic Data Capture (REDCap), a secure web platform for building and managing online databases and surveys.\u003c/p\u003e\n\u003ch3\u003eProcedures\u003c/h3\u003e\n\u003cp\u003eWe initially identified subjects for this study in the commercial laboratory provider portal by using the filter tool to isolate patients who had GT ordered within the month and year relevant to this study. Patients who received GT with CHOA are referred by their otolaryngologist to a genetic counselor for pre-test counseling with the laboratory\u0026rsquo;s genetic counseling services. Patients may choose whether to undergo pre-test genetic counseling prior to obtaining their GT results and have the option of pursuing post-test counseling to review GT results in detail. Some patients experience a delay in the receipt of GT results if the family is unreachable for genetic counseling or if their insurance plan requires a prior authorization for GT. Patients chose whether to undergo pre-test or post-test genetic counseling, but both options were available to every patient. Once the subjects were identified, an initial chart review was done to assess whether the patient met the inclusion criteria. For patients who did meet inclusion criteria, the following data was collected via chart review in the electronic medical record system and recorded in REDCap: medical record number, sex assigned at birth, age when GT was ordered, race/ethnicity, laterality of hearing loss, degree of hearing loss, zip code, insurance type, term at birth, the presence of family history of hearing loss, the presence of a comorbidity and comorbidity type, preferred language, GT completion status and reason for incompletion (if applicable), GT results, and the turnaround time from GT ordered to GT completed. The degree of hearing loss was collected by calculating the pure tone average (PTA) and by collecting the speech awareness threshold (SAT) or speech recognition threshold (SRT). These data points were collected from either pure-tone testing or auditory brainstem response testing. PTA is calculated by averaging the hearing sensitivity at 500, 1000, 2000, and 4000 Hz. Where only three of these sensitivity values were available, the average was calculated across those three values. These values were then used to classify the hearing loss as normal (o-25dB0, mild (20-40dB), moderate (41-55dB), moderately-severe (56-70dB), severe (71-90dB), or profound (\u0026gt;\u0026thinsp;90dB) (Clark, 1981). In cases with asymmetric hearing loss, the worse hearing ear was used. Zip code was collected to use in the Opportunity Index website to ascertain median annual household income, and median annual household income was used to determine socioeconomic status. Insurance type was collected as private, public, or no coverage. Term at birth was defined as premature (\u0026lt;\u0026thinsp;37 weeks 0 days gestation) or full term (\u0026ge;\u0026thinsp;37 weeks gestation). Once data collection was complete, all data was de-identified and exported to Microsoft Excel. In Microsoft Excel, the zip code data point was transformed to socioeconomic status.\u003c/p\u003e\n\u003ch3\u003eStatistical Analyses\u003c/h3\u003e\n\u003cp\u003eIBM Statistical Product and Service Solutions (SPSS) was used to analyze the data. Descriptive analysis was performed. To test our main outcome, we performed a chi-square test to analyze whether there was a difference in GT completion between the group who had GT via blood and the group who had GT via buccal swab. A binomial test of proportion was used to test a significant difference between the sample size of each cohort. Demographics were compared between the blood sample group and buccal swab group using chi-square, Fisher-Freeman-Halton, and independent sample median tests. Chi-square tests were used when comparing two categorical variables. The Fisher-Freeman-Halton test was used when the sample size was small in a comparison between two categorical variables. The independent sample median test was used to compare GT turnaround times. A binary logistic regression between the demographic characteristics and GT cohort was performed to identify factors other than sample type that may contribute to GT completion. A p-value less than 0.05 was used to determine statistical significance.\u003c/p\u003e"},{"header":"Results","content":"\u003cp\u003e In total, 227 patients met our inclusion criteria and had a GT order placed. The blood draw cohort consisted of 79 patients, of whom 74 completed genetic testing. The buccal swab cohort consisted of 148 patients, of whom 138 completed genetic testing (Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e). A total of 50 patients were excluded from the blood draw cohort but had genetic testing ordered: 4 patients had congenital cytomegalovirus infection, 17 patients were parents of children with hearing loss, 25 patients had non-SNHL, 1 patient had syndromic hearing loss, 2 patients were over the age of 18 at the time of GT, and 1 patient received GT through the incorrect sample type for the cohort. In the buccal swab cohort, 110 patients were excluded but had genetic testing ordered: 2 patients had congenital cytomegalovirus infection, 1 patient had congenital Zika infection, 30 patients were parents of children with hearing loss, 65 patients had non-SNHL, 5 patients had syndromic hearing loss, 1 patient was over the age of 18 at the time of GT, and 5 patients received GT through the incorrect sample type for the cohort.\u003c/p\u003e \u003cp\u003eThe cohorts were mostly publicly insured (67.1% blood draw, 56% buccal swab) and patients with bilateral hearing loss (64.6% blood draw, 73% buccal swab). Patients in both cohorts also had similar rates of GT completion, lack of family history of hearing loss, and lack of comorbidities. Families that were included in this study and did not ultimately complete GT (5 patients in the blood draw cohort and 10 patients in the buccal swab cohort) most often were cited to have canceled testing at the billing stage via the commercial laboratory provider portal. The two cohorts had marked differences in sample size (p\u0026thinsp;\u0026lt;\u0026thinsp;0.001) where almost twice as many individuals were included in the buccal swab cohort than the blood draw cohort. This difference in sample size reflects the increased clinic volume in the later time period. Individuals in the buccal swab cohort were most likely to undergo genetic evaluation at age 6\u0026ndash;18 years than their counterparts in the blood draw cohort (p\u0026thinsp;\u0026lt;\u0026thinsp;0.05). The buccal swab cohort had more White (p\u0026thinsp;\u0026lt;\u0026thinsp;0.05), Black/African American (p\u0026thinsp;\u0026lt;\u0026thinsp;0.05), and individuals of other race or ethnicity (p\u0026thinsp;\u0026lt;\u0026thinsp;0.05) than the blood draw cohort.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eDemographic Information\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"4\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eBlood Draw\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eBuccal Swab\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003ep\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTotal n/N (%)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e79/227 (34.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e148/227 (65.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e\u0026lt;\u0026thinsp;0.001\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eGenetic testing completion\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e1.0\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e74 (93.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e138 (93.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e5 (6.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e10 (6.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSex Assigned at Birth\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.268\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e44 (55.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e71 (48)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e35 (44.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e77 (52)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAge at genetic evaluation\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.025 \u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e0-1 years\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e21 (26.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e34 (23)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e1\u0026ndash;6 years\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e27 (34.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e30 (20.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e6\u0026ndash;18 years\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e31 (39.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e84 (56.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eRace/Ethnicity\u003csup\u003ee\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eWhite\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e30 (38)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e82 (55)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.018 \u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eBlack/African American\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e39 (49)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e51 (34)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.033 \u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eHispanic/Latino\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e23 (29)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e31 (21)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.192 \u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eOther\u003csup\u003ef\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1 (1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e12 (8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.035 \u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePreferred language\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.934\u003csup\u003ec\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eEnglish\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e70 (88.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e120 (81)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSpanish\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e8 (10.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e17 (11.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eASL\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1 (1.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5 (3.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eOther\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e0 (0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6 (4.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSocioeconomic status\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.230\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eLower-middle class\u003c/p\u003e \u003cp\u003e(\u003cspan\u003e$\u003c/span\u003e30,001 \u0026ndash; \u003cspan\u003e$\u003c/span\u003e58,020)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e68 (86)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e135 (91.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMiddle class\u003c/p\u003e \u003cp\u003e(\u003cspan\u003e$\u003c/span\u003e58,021 \u0026ndash; \u003cspan\u003e$\u003c/span\u003e94,000)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e11 (14)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e13 (8.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eInsurance type\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.196\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePublic\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e53 (67.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e83 (56)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePrivate\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e22 (27.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e59 (40)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo coverage\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e4 (5.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6 (4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTerm at birth\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.661\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePremature\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e15 (19)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e28 (19)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFull term\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e59 (74.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e115 (77.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnsure\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e5 (6.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5 (3.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNBHS status\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.302\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFail\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e39 (49.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e57 (38.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePass\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e34 (43)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e76 (51.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnsure\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e6 (7.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e15 (10.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eLaterality of hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.357\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnilateral- left\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e14 (17.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e17 (11.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnilateral- right\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e14 (17.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e23 (15.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eBilateral\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e51 (64.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e108 (73)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSeverity of hearing loss in worst ear (SRT/SAT)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.073\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNormal (0-25dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e2 (2.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e11 (7.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMild (20-40dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e27 (34.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e54 (36.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eModerate (41-55dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e9 (11.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e21 (14.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eModerate severe (56-70dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e16 (20.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e12 (8.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSevere (71-90dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e8 (10.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e23 (15.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eProfound (\u0026gt;\u0026thinsp;90dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e17 (21.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e27 (18.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePresence of a comorbidity\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.748\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e18 (22.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e37 (25)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e61 (77.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e111 (75)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFamily history of hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.973\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e25 (31.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e45 (30.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e49 (62)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e93 (62.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnsure\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e5 (6.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e10 (6.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eGenetic testing turnaround time\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e38 days\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e42 days\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.035\u003csup\u003ed\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003ctfoot\u003e \u003ctr\u003e\u003ctd colspan=\"4\"\u003e\u003csup\u003ea\u003c/sup\u003eBinomial test of proportion p-value, \u003csup\u003eb\u003c/sup\u003eChi-square p-value, \u003csup\u003ec\u003c/sup\u003eFisher-Freeman-Halton p-value, \u003csup\u003ed\u003c/sup\u003e Independent samples median p-value\u003c/td\u003e\u003c/tr\u003e \u003c/tfoot\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003e \u003csup\u003ee\u003c/sup\u003eSome participants of this study identified with more than one racial/ethnic group.\u003c/p\u003e \u003cp\u003e \u003csup\u003ef\u003c/sup\u003eOther encompasses participants that identified as American Indian or Alaska Native, Native Hawaiian or Other Pacific Islander, or Asian.\u003c/p\u003e \u003cp\u003eGT turnaround time had a median of 38 days in the blood draw cohort and 42 days in the buccal swab cohort (p\u0026thinsp;\u0026lt;\u0026thinsp;0.05). Patients who underwent GT via blood draw had a median of 10.3 days of delay between the provider ordering a laboratory visit for blood sample collection and when the patient presented for sample collection. Patients who underwent GT via buccal swab did not experience a delay in sample collection as the sample was collected during the same otolaryngology visit at which the test was ordered. Diagnoses that were discovered after GT was completed are included in Table\u0026nbsp;\u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eGenetic Diagnoses by Cohort\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"3\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003eDiagnosis\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eBlood Draw\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eBuccal Swab\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eCHARGE syndrome\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eSTRC-\u003c/em\u003erelated hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eACTG1\u003c/em\u003e-related disorder\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eDFNB3\u003c/em\u003e autosomal recessive non-syndromic sensorineural hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003ePDZD7\u003c/em\u003e-related non-syndromic hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eGJB2\u003c/em\u003e-related non syndromic hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e6\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e11\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eMYO15A\u003c/em\u003e-related non-syndromic hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eTPRN\u003c/em\u003e-related hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUsher syndrome (\u003cem\u003eMYO7A\u003c/em\u003e)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMuenke syndrome\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eKlinefelter syndrome\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eSMPX\u003c/em\u003e-related non-syndromic hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eSLITRK6\u003c/em\u003e-related hearing loss and myopia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eHereditary neuropathy with liability to pressure palsies\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eTMPRSS3\u003c/em\u003e-related hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAlport syndrome\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAutosomal recessive non-syndromic male infertility\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eMITF\u003c/em\u003e-related Waardenburg spectrum disorder\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eMYO7A\u003c/em\u003e-related hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cem\u003eTECTA\u003c/em\u003e-related disorder\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTotal\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e19\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e25\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003e \u003csup\u003ea\u003c/sup\u003eOne patient was diagnosed with \u003cem\u003eGJB2\u003c/em\u003e-related non syndromic hearing loss and hereditary neuropathy with liability to pressure palsies in the buccal swab cohort.\u003c/p\u003e \u003cp\u003e \u003csup\u003eb\u003c/sup\u003eA second patient was diagnosed with \u003cem\u003eSTRC\u003c/em\u003e-related hearing loss and autosomal recessive non-syndromic male infertility in the buccal swab cohort.\u003c/p\u003e \u003cp\u003eIn a comparison between the types of genetic testing results received, both groups had a 5% negative result rate and similar rates of positive GT results (4% blood draw, 5% buccal swab). Patients in the blood draw group had more positive genetic testing and variant of uncertain significance (VUS) results (42%), while the buccal swab group had this result in 27% of cases. Patients in the buccal swab group had more VUS only results (63%) than patients in the blood draw group (49%). These results are depicted in Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e.\u003c/p\u003e \u003cp\u003e \u003c/p\u003e \u003cp\u003ea. Blood draw (n\u0026thinsp;=\u0026thinsp;74, 93.7%) b. Buccal swab (n\u0026thinsp;=\u0026thinsp;138, 93.2%)\u003c/p\u003e \u003cp\u003eBinary logistic regression was used by this study to ascertain the effects of the demographic variables on the likelihood that patients completed GT via buccal swab compared to the blood draw cohort. Based on the results presented in Table\u0026nbsp;\u003cspan refid=\"Tab3\" class=\"InternalRef\"\u003e3\u003c/span\u003e, patient race/ethnicity and severity of hearing loss were revealed to be significant predictive factors. More patients who identified as White (p\u0026thinsp;\u0026lt;\u0026thinsp;0.05) had a GT ordered in the buccal swab cohort compared to the blood draw cohort as indicated by the odds ratio (OR) of 7.306. Additionally, patients identifying as a race/ethnicity other than White, Black/African American, or Hispanic/Latino (this includes Native American or Alaska Native, Native Hawaiian or Other Pacific Islander, and Asian) descent (p\u0026thinsp;\u0026lt;\u0026thinsp;0.05) underwent GT in the buccal swab cohort more than the blood draw cohort (OR\u0026thinsp;=\u0026thinsp;42.687). Patients with moderately severe hearing loss underwent GT less via buccal swab when compared to blood draw (p\u0026thinsp;\u0026lt;\u0026thinsp;0.05, OR\u0026thinsp;=\u0026thinsp;0.053). The logistic regression model was statistically significant χ2 (27)\u0026thinsp;=\u0026thinsp;59.770, p\u0026thinsp;\u0026lt;\u0026thinsp;0.001. The model explains 33.9% (Nagelkerke R\u003csup\u003e2\u003c/sup\u003e ) of the variance between cohorts and correctly classified 73.1% of cases.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab3\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 3\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eBinary logistic regression analysis outcomes\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"3\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003eVariable\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eP-value\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOR (95% CI)\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFemale (reference is male)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.466\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.766 (0.374\u0026ndash;1.569)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u0026gt;\u0026thinsp;1\u0026ndash;6 years\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.217\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.544 (0.207\u0026ndash;1.429)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u0026gt;\u0026thinsp;6\u0026ndash;18 years\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.380\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1.584 (0.567\u0026ndash;4.5424)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eWhite\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.017*\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e7.306 (1.418\u0026ndash;37.646)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eBlack/African American\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.213\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e3.122 (0.521\u0026ndash;18.708)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eHispanic/Latino\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.91\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.404 (0.141\u0026ndash;1.158)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eOther race/ethnicity\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.006*\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e42.687 (2.862\u0026ndash;636.75)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSpanish Speaking\u003c/p\u003e \u003cp\u003e(preferred primary language)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.066\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e4.859 (0.898\u0026ndash;26.281)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eOther language\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.110\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e6.955 (0.645\u0026ndash;75.008)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMiddle class\u003c/p\u003e \u003cp\u003e(\u003cspan\u003e$\u003c/span\u003e58,021 \u0026ndash; \u003cspan\u003e$\u003c/span\u003e94,000)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.119\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.383 (0.114\u0026ndash;1.282)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePrivate insurance\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.400\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1.434 (0.620\u0026ndash;3.316)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo coverage\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.958\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1.045 (0.200-5.448)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eFull term\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.443\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1.403 (0.590\u0026ndash;3.333)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnsure of birth term\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.089\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.147 (0.016\u0026ndash;1.338)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003ePass NBS\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.220\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1.721 (0.723\u0026ndash;4.099)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnsure NBS\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.438\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1.831 (0.3970\u0026ndash;8.455)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnilateral hearing loss- right\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.082\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e3.095 (0.967\u0026ndash;11.054)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eBilateral hearing loss\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.055\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e2.675 (0.981\u0026ndash;7.295)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMild (20-40dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.236\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.250 (0.025\u0026ndash;2.471)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eModerate (41-55dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.718\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.633 (0.053\u0026ndash;7.534)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eModerate severe (56-70dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.017*\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.053 (0.005\u0026ndash;0.592)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSevere (71-90dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.361\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.327 (0.030\u0026ndash;3.606)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eProfound (\u0026gt;\u0026thinsp;90dB)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.171\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.186 (0.017\u0026ndash;2.062)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo comorbidity\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.431\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1.424 (0.591\u0026ndash;3.432)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNo family history\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.649\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e0.833 (0.379\u0026ndash;1.831)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eUnsure of family history\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.664\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1.526 (.227-10.266)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eGenetic testing turnaround time\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e0.230\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c3\"\u003e \u003cp\u003e1.008 (0.995\u0026ndash;1.022)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003ctfoot\u003e \u003ctr\u003e\u003ctd colspan=\"3\"\u003e\u003cem\u003eOR\u003c/em\u003e odds ratio, \u003cem\u003eCI\u003c/em\u003e confidence interval\u003c/td\u003e\u003c/tr\u003e \u003ctr\u003e\u003ctd colspan=\"3\"\u003e* p\u0026thinsp;\u0026lt;\u0026thinsp;0.05\u003c/td\u003e\u003c/tr\u003e \u003c/tfoot\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e"},{"header":"Discussion","content":"\u003cp\u003eTo our knowledge, this is the first study to assess the GT completion between different sample collection methods in a single patient population. Previous research has stated that the DNA yield in saliva samples is comparable to DNA yield in blood samples (Abraham et al., \u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e2012\u003c/span\u003e; Bruinsma et al., \u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Hu et al., \u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e2012\u003c/span\u003e). In similar time periods, the rate of GT was similar between patients who were offered a blood draw and those who were offered a buccal swab. Literature has suggested that families undergoing a hearing loss diagnostic odyssey postpone or decline GT due to the added stress of another procedure in their journey (Carmichael et al., \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e2015\u003c/span\u003e; Lesperance et al., \u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e2018\u003c/span\u003e). The observed similarities in GT completion of the cohorts in this study suggests that barriers to GT completion may not be the sample type alone, but rather a more complex set of factors that may affect family decision-making.\u003c/p\u003e \u003cp\u003eAn interesting finding in our study was that the patients who underwent GT by buccal swab had longer turnaround times from sample collection to results compared to patients who underwent testing by blood draw. A possible explanation for the increased turnaround time for the buccal swab cohort may be the higher rates of private insurance among these patients when compared to the blood draw cohort. Private insurances frequently require prior authorizations for GT for coverage of this service. This finding was also surprising given that there is a median of 10.3 days of delay between the provider ordering a laboratory visit for a blood sample and when the patient presented for sample collection. The delay in blood draw collection can be attributed a variety of factors, including a lack of blood draw services in some CHOA facilities that cause patients to present to a different facility for GT, patients' reluctance to undergo a blood draw, or the earlier closing time of some laboratories, which may prevent patients seen during late afternoon appointments from completing the blood draw on the same day.\u003c/p\u003e \u003cp\u003eGT revealed diagnoses in both cohorts that were related to syndromic and non-syndromic causes of hearing loss. These diagnoses provide insightful information for families who choose to undergo GT. Literature suggests that parents and caretakers of children with hearing loss may choose to have their child undergo GT for a variety of reasons. These include reaching an accurate diagnosis, providing anticipatory guidance on prognosis, and accessing support services and support groups (Carmichael et al., \u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e2015\u003c/span\u003e; Clark et al., \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e2024\u003c/span\u003e; Palmer et al., \u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e2009\u003c/span\u003e). However, families who undergo GT for their child\u0026rsquo;s hearing loss also report limited understanding of these results (Cejas et al., \u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e2024\u003c/span\u003e; Davis et al., \u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e2021\u003c/span\u003e). Genetics professionals such as genetic counselors and geneticists are best equipped with the knowledge to interpret these results, but the clinical genetics workforce is experiencing a shortage (Jenkins et al., \u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e2021\u003c/span\u003e). Otolaryngologists report hesitancies in explaining GT results to their patients and a preference for referring to a genetics professional for GT (Heyward et al., \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e2023\u003c/span\u003e). This highlights the increasing need for genetics professionals to support this patient population, particularly when GT results reveal VUS, which present unique challenges in interpretation and counseling for non-genetics providers.\u003c/p\u003e \u003cp\u003ePatients in these cohorts were diagnosed with a variety of syndromic and non-syndromic SNHL etiologies through GT. There were also many patients who received VUS results. ACMG and the Association for Molecular Pathology published professional guidelines that state that VUS results do not meet the standards for benign or pathogenic classification (Richards et al., \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e2015\u003c/span\u003e). Further clarification from the Clinical Genome Resource indicate that VUS results fall into the 10%-90% confidence of pathogenicity where likely pathogenic and pathogenic results reflect a 90%-99% confidence of pathogenicity and likely benign and benign results reflect a 0%-10% confidence of pathogenicity (Tavtigian et al., \u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e2018\u003c/span\u003e; Tavtigian et al., \u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e2020\u003c/span\u003e). Historically, individuals of non-European descent are underrepresented in genetic studies, which contributes to high rates of uncertain results in more diverse population cohorts (Florentine et al., \u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e2022\u003c/span\u003e; Gudmundsson et al., \u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e2022\u003c/span\u003e). Our study had representation of diverse racial and ethnic backgrounds, which may have contributed to the high rates of VUS found in both cohorts.\u003c/p\u003e\n\u003ch3\u003eLimitations\u003c/h3\u003e\n\u003cp\u003eThe main limitation of this study is that it could not assess patients who had been offered genetic testing and declined as they would not have had an order placed in the commercial laboratory provider portal. This study also cannot account for provider variability in offering GT. Some providers may have begun offering testing during the study that did not previously order GT in an earlier time period, and it is possible that providers\u0026rsquo; tendency to offer GT to this patient population fluctuated over time. Additionally, the difference in sample sizes between the cohorts resulted from an increase in clinic encounters over time. While this could reflect broader trends in referral or diagnosis practices, both cohorts were subject to the same inclusion criteria, minimizing potential selection bias in this area. There may be selection bias in the time periods chosen in this study as the study may not be representative of the GT completion of these patients as a whole and only offer a glimpse in the time periods we choose. Selection bias may also come from the specific inclusion criteria of congenital NSSNHL. There may be under coverage bias if the individuals who chose to undergo GT are not representative of the broader population of patients with congenital NSSNHL. Also, due to the retrospective nature of this study, we cannot define a direct causation between sample method and GT completion. In the logistic regression analysis, statistical significance was reached when certain demographic characteristics were overrepresented or underrepresented in the buccal swab cohort when compared to the blood draw cohort. The findings of our logistic regression may be explained by the difference in sample size for each cohort and resultant class imbalance.\u003c/p\u003e \u003cdiv id=\"Sec11\" class=\"Section2\"\u003e \u003ch2\u003eFuture Research\u003c/h2\u003e \u003cp\u003eThis study did not find a difference in GT completion between two sample types. Future research could focus qualitatively on families who received GT through blood draw and those who received GT through buccal swab to assess their lived experiences. Further insights may also be gained by focusing on the decision making of families who chose to decline genetic testing to assess how the GT process may be adjusted for families who experience distress and alleviate additional hardship.\u003c/p\u003e \u003c/div\u003e"},{"header":"Conclusion","content":"\u003cp\u003eThis study is the first to compare genetic testing completion rates based on sample collection method within a single patient population. The similar rates of test completion between the blood draw and buccal swab groups suggest that factors beyond sample type, such as broader family decision-making dynamics, may play a more significant role in testing uptake.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e \u003cstrong\u003eEthical approval\u003c/strong\u003e \u003cp\u003e This retrospective chart review study involving human participants was in accordance with the ethical standards of the institutional and national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The IRB of Children\u0026rsquo;s Healthcare of Atlanta approved this study.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eConflict of Interest\u003c/strong\u003e \u003cp\u003eThe authors declare that they have no conflict of interest.\u003c/p\u003e \u003c/p\u003e\u003ch2\u003eFunding\u003c/h2\u003e \u003cp\u003eThis research did not receive any specific grant from any funding agency in the public, commercial, or not-for-profit sectors.\u003c/p\u003e\u003ch2\u003eAuthor Contribution\u003c/h2\u003e\u003cp\u003eB. A.and N.G. contributed to the study conception and all authors contributed to the study design. Data collection and analysis was performed by B.A. The first draft of the manuscript was written by B.A. and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.\u003c/p\u003e\u003ch2\u003eAcknowledgement\u003c/h2\u003e\u003cp\u003eThe study team would like to thank Hannah Waddel, PhD for providing consulting assistance with the statistical analyses performed in this study.\u003c/p\u003e\u003ch2\u003eData availability\u003c/h2\u003e \u003cp\u003eThe authors confirm that the data supporting the findings of this study are available within the article and its supplementary materials.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eAbraham JE, Maranian MJ, Spiteri I, Russell R, Ingle S, Luccarini C, Earl HM, Pharoah PP, Dunning AM, Caldas C (2012) Saliva samples are a viable alternative to blood samples as a source of DNA for high throughput genotyping. BMC Med Genomics 5:19. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://doi.org/10.1186/1755-8794-5-19\u003c/span\u003e\u003cspan address=\"10.1186/1755-8794-5-19\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eAlford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C, Loss AWG o. U. o. G. E. G. f. t. E. D. o. C. H., Professional P, Guidelines C (2014) American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. \u003cem\u003eGenet Med\u003c/em\u003e, \u003cem\u003e16\u003c/em\u003e(4), 347\u0026ndash;355. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://doi.org/10.1038/gim.2014.2\u003c/span\u003e\u003cspan address=\"10.1038/gim.2014.2\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eBrodie KD, Liao EN, Florentine MM, Chan DK (2023) Impact of Genetic Testing on Hearing Interventions. 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Nat Med 30(7):1898\u0026ndash;1904. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003ehttps://doi.org/10.1038/s41591-024-03023-5\u003c/span\u003e\u003cspan address=\"10.1038/s41591-024-03023-5\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Genetic testing, Non-syndromic, Hearing loss, Pediatric, Sample type","lastPublishedDoi":"10.21203/rs.3.rs-6596334/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-6596334/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eCongenital pediatric hearing loss can be linked to a genetic cause in about 60% of cases. Genetic testing (GT) for this condition can be complicated by the availability of blood draw services and the patient\u0026rsquo;s amenability to this procedure. The primary objective of this study was to assess whether GT sample collection method influences the completion rate in pediatric patients with congenital, non-syndromic sensorineural hearing loss. This was a retrospective chart review of patients at a tertiary pediatric otolaryngology clinic who had GT ordered through blood draw from May 2022-April 2023 and patients who had GT ordered through buccal swab from June 2023-May 2024. Patients were offered a testing method based on availability at our institution during the time period studied. The primary endpoint was completion of GT. Additional data collected included demographic patient characteristics, average turnaround time for GT completion, and GT results. Each cohort had a GT completion rate of approximately 93%. Almost twice as many patients had GT ordered via buccal swab (148/227) than blood sample (79/227: p\u0026thinsp;\u0026lt;\u0026thinsp;0.05). There was no difference in GT results between cohorts. The observed similarities in GT completion of the cohorts in this study suggests that barriers to GT completion may not be the sample type alone, but rather a more complex set of factors that may affect family decision-making.\u003c/p\u003e","manuscriptTitle":"The Effect of Sample Type on Genetic Testing Completion in Pediatric Congenital Hearing Loss Patients","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-05-15 10:27:30","doi":"10.21203/rs.3.rs-6596334/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2025-09-23T14:50:14+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-07-02T16:04:58+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"137455887246475968678317678718579532304","date":"2025-06-04T07:54:37+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-05-09T11:24:23+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-05-09T06:56:24+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-05-09T06:51:41+00:00","index":"","fulltext":""},{"type":"submitted","content":"Journal of Community Genetics","date":"2025-05-05T16:52:43+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"journal-of-community-genetics","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"jocg","sideBox":"Learn more about [Journal of Community Genetics](http://link.springer.com/journal/12685)","snPcode":"12687","submissionUrl":"https://submission.nature.com/new-submission/12687/3","title":"Journal of Community Genetics","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"em","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"a0cd1dab-25f6-415a-8766-d8f37c3c0bbe","owner":[],"postedDate":"May 15th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2026-01-26T16:06:17+00:00","versionOfRecord":{"articleIdentity":"rs-6596334","link":"https://doi.org/10.1007/s12687-025-00834-y","journal":{"identity":"journal-of-community-genetics","isVorOnly":false,"title":"Journal of Community Genetics"},"publishedOn":"2026-01-24 15:59:13","publishedOnDateReadable":"January 24th, 2026"},"versionCreatedAt":"2025-05-15 10:27:30","video":"","vorDoi":"10.1007/s12687-025-00834-y","vorDoiUrl":"https://doi.org/10.1007/s12687-025-00834-y","workflowStages":[]},"version":"v1","identity":"rs-6596334","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-6596334","identity":"rs-6596334","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}