The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation.
Genetic testing
Hearing loss
Otolaryngology
Pediatric
Qualitative
Journal
Journal of community genetics
ISSN: 1868-310X
Titre abrégé: J Community Genet
Pays: Germany
ID NLM: 101551501
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
received:
04
07
2022
accepted:
27
04
2023
medline:
9
5
2023
pubmed:
9
5
2023
entrez:
8
5
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37156903
doi: 10.1007/s12687-023-00649-9
pii: 10.1007/s12687-023-00649-9
pmc: PMC10444707
doi:
Types de publication
Journal Article
Langues
eng
Pagination
377-385Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Références
Int J Pediatr Otorhinolaryngol. 2016 Nov;90:251-258
pubmed: 27729144
Genet Med. 2021 Aug;23(8):1458-1464
pubmed: 33941882
J Community Genet. 2019 Jan;10(1):85-93
pubmed: 29700759
J Genet Couns. 2018 Jun;27(3):597-607
pubmed: 28980162
Med Teach. 2008;30(2):192-8
pubmed: 18464146
Am J Otolaryngol. 2017 Sep - Oct;38(5):547-550
pubmed: 28535875
J Community Genet. 2011 Mar;2(1):1-11
pubmed: 22109718
Qual Health Res. 2017 Mar;27(4):591-608
pubmed: 27670770
Genet Med. 2014 Apr;16(4):347-55
pubmed: 24651602
Curr Opin Otolaryngol Head Neck Surg. 2017 Oct;25(5):378-384
pubmed: 28697000
Curr Opin Pediatr. 2018 Dec;30(6):740-745
pubmed: 30199404
SAGE Open Med Case Rep. 2017 Dec 11;5:2050313X17745904
pubmed: 29276601
J Genet Couns. 2018 Feb;27(1):16-20
pubmed: 29052810
Ann Otol Rhinol Laryngol. 2011 Oct;120(10):674-81
pubmed: 22097154
J Genet Couns. 2022 Jun;31(3):771-780
pubmed: 34939253
Genet Med. 2021 Jun;23(6):1151-1157
pubmed: 33580224
J Genet Couns. 2014 Apr;23(2):156-63
pubmed: 23793969
Int J Pediatr Otorhinolaryngol. 2019 Sep;124:68-75
pubmed: 31163360
Am J Hum Genet. 2000 Dec;67(6):1621-5
pubmed: 11062052
Arch Otolaryngol Head Neck Surg. 2007 Mar;133(3):231-6
pubmed: 17372079
Curr Opin Otolaryngol Head Neck Surg. 2017 Oct;25(5):385-389
pubmed: 28682819
Int J Pediatr Otorhinolaryngol. 2019 Jan;116:141-146
pubmed: 30554685
Arch Otolaryngol Head Neck Surg. 2001 Aug;127(8):937-40
pubmed: 11493201
Genet Med. 2015 Sep;17(9):757-60
pubmed: 25503494
Genet Med. 2003 Mar-Apr;5(2):70-6
pubmed: 12644775
Otolaryngol Head Neck Surg. 2015 Nov;153(5):843-850
pubmed: 26216887