ArticleJournal of genetic counseling2018
"My Plate is Full": Reasons for Declining a Genetic Evaluation of Hearing Loss.
Article in Journal of genetic counseling, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic mapping review of qualitative research in paediatric otolaryngology.The Journal of laryngology and otology · 2026Pooled it
- Genetic needs assessment of children with intellectual disability, developmental delay, hearing loss, and/or autism spectrum disorder.Pediatric research · 2026Article
- The effect of sample type on genetic testing completion in pediatric congenital hearing loss patients.Journal of community genetics · 2026Article
- Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio.Journal of community genetics · 2025Article
- "It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunity.European journal of human genetics : EJHG · 2025Article
- Parent experiences with genetic testing for pediatric hearing loss.Journal of genetic counseling · 2025Article
- The qualitative experiences of otolaryngologists with genetic services in pediatric hearing loss evaluation.Journal of community genetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to obtain patient and parent perspectives on genetic evaluation of hearing loss, in order to identify motivators, expectations, and barriers. Three focus groups were conducted following a semi-structured discussion guide, led by an independent moderator. Participants were hearing parents of children with permanent hearing loss or deaf adults. Qualitative content analysis was used to develop a codebook and identify major themes and subthemes. Participant views were compared to national guidelines. The 28 participants comprised 23 parents representing 21 unique families and 5 deaf adults. 13/21 families and 0/5 adults reported comorbidities, 4/21 families and 3/5 adults had a positive family history, and 12/21 families versus 0/5 adults had utilized genetics services. A common theme among adults and parents was a curiosity as to the cause of hearing loss. Parents were motivated to detect comorbidities and optimize care for hearing loss. Some parents felt overwhelmed by the hearing loss and unprepared to pursue early genetic evaluation as recommended in guidelines. Several reported positive experiences following genetics consultation, while others reported unease and unmet expectations. Notably, both parents and adults expressed ambivalence regarding the desire for genetic knowledge. Financial concerns and difficulties obtaining a referral were cited as extrinsic barriers. For parents of children with hearing loss, both the presence of comorbidities and a positive family history were drivers of genetics consultation and/or genetic testing. We identified educational opportunities for both patients and providers that would improve informed decision-making and increase access to genetic services. Consideration of the patient/family perspective and their decision-making processes, along with flexibility in the approach to genetics evaluation and its timing, will optimize both the development and implementation of guidelines.
Indexed as
Identifiers
28980162What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.