“My Plate is Full”: Reasons for Declining a Genetic Evaluation of Hearing Loss
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.
KeywordsDeafness Hearing loss Patient preferences Genetic services Comorbidities Autonomy
The authors thank the families for their participation. This research was supported by a grant to MML from the American Society of Pediatric Otolaryngology and the American Academy of Otolaryngology-Head and Neck Surgery Foundation. We thank David Baker of Baker Strategy Group for assistance with recruiting and running the focus groups, and Transcription America for assistance with transcription. This study was completed in partial fulfillment of the requirements for Master of Science, University of Michigan Genetic Counseling Program, Ann Arbor, Michigan.
Compliance with Ethical Standards
Conflict of Interest
Marci M. Lesperance, Erin Winkler, Tori L. Melendez and Beverly M. Yashar declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
No animal studies were carried out by the authors for this article.
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