The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation.

IF 1.5 Q4 GENETICS & HEREDITY
Aaliyah Heyward, Kelsi Hagerty, Lauren Lichten, Julie Howell, Ching Siong Tey, Kavita Dedhia, Dio Kavalieratos, Nandini Govil
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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.

耳鼻喉科遗传服务在儿童听力损失评估中的定性经验。
基因检测是评估儿童感音神经性(SNHL)听力损失的最高诊断检测之一,40-65%的患者可进行基因诊断。以前的研究主要集中在儿科SNHL基因检测的应用和耳鼻喉科医生对遗传学的一般理解。本定性研究考察了耳鼻喉科医生在订购儿童听力损失基因检测时对促进因素和障碍的看法。还探讨了克服障碍的潜在解决办法。11名(N = 11)美国耳鼻喉科医生进行了半结构化访谈。大多数参与者目前在南方,学术,城市环境中执业,并完成了儿科耳鼻喉科奖学金。保险是检测的主要障碍之一,增加遗传学提供者的可及性是最常被引用的提高遗传服务利用率的解决方案。耳鼻喉科医生将患者转到遗传学诊所进行基因检测,而不是自己订购检测,最常见的原因是难以获得保险覆盖范围和不熟悉基因检测过程。这项研究表明,耳鼻喉科医生认识到基因检测的重要性和实用性,但缺乏基因专业技能、知识和资源,使他们很难促进检测。包括遗传学提供者在内的多学科听力损失诊所可能会增加遗传服务的总体可及性。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
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.
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