{"title":"The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation.","authors":"Aaliyah Heyward, Kelsi Hagerty, Lauren Lichten, Julie Howell, Ching Siong Tey, Kavita Dedhia, Dio Kavalieratos, Nandini Govil","doi":"10.1007/s12687-023-00649-9","DOIUrl":null,"url":null,"abstract":"<p><p>Genetic testing is one of the most high-yield diagnostic tests in the evaluation of pediatric sensorineural (SNHL) hearing loss, leading to a genetic diagnosis in 40-65% of patients. Previous research has focused on the utility of genetic testing in pediatric SNHL and otolaryngologists' general understanding of genetics. This qualitative study examines otolaryngologists' perceptions about facilitators and barriers when ordering genetic testing in the workup of pediatric hearing loss. Potential solutions for overcoming barriers are also explored. Eleven (N = 11) semi-structured interviews were conducted with otolaryngologists in the USA. Most participants were currently practicing in a southern, academic, urban setting and had completed a pediatric otolaryngology fellowship. Insurance was one of the main barriers to testing, and increased genetics provider accessibility was the most frequently cited solution to increase utilization of genetic services. Difficulty acquiring insurance coverage and unfamiliarity with the genetic testing process were the most common reasons otolaryngologists referred patients to genetics clinics for genetic testing, as opposed to ordering testing themselves. This study suggests that otolaryngologists recognize the importance and utility of genetic testing, but a lack of genetics-specific skills, knowledge, and resources makes it difficult for them to facilitate testing. Multidisciplinary hearing loss clinics that include genetics providers may increase the overall accessibility of genetic services.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":null,"pages":null},"PeriodicalIF":1.5000,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10444707/pdf/12687_2023_Article_649.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Community Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12687-023-00649-9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Genetic testing is one of the most high-yield diagnostic tests in the evaluation of pediatric sensorineural (SNHL) hearing loss, leading to a genetic diagnosis in 40-65% of patients. Previous research has focused on the utility of genetic testing in pediatric SNHL and otolaryngologists' general understanding of genetics. This qualitative study examines otolaryngologists' perceptions about facilitators and barriers when ordering genetic testing in the workup of pediatric hearing loss. Potential solutions for overcoming barriers are also explored. Eleven (N = 11) semi-structured interviews were conducted with otolaryngologists in the USA. Most participants were currently practicing in a southern, academic, urban setting and had completed a pediatric otolaryngology fellowship. Insurance was one of the main barriers to testing, and increased genetics provider accessibility was the most frequently cited solution to increase utilization of genetic services. Difficulty acquiring insurance coverage and unfamiliarity with the genetic testing process were the most common reasons otolaryngologists referred patients to genetics clinics for genetic testing, as opposed to ordering testing themselves. This study suggests that otolaryngologists recognize the importance and utility of genetic testing, but a lack of genetics-specific skills, knowledge, and resources makes it difficult for them to facilitate testing. Multidisciplinary hearing loss clinics that include genetics providers may increase the overall accessibility of genetic services.
期刊介绍:
The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals.
Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues.
The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries.
The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.