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Parent experiences with genetic testing for pediatric hearing loss.

Ivette Cejas1,2, Jennifer Coto2, Christina M Sarangoulis1

  • 1Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.

Journal of Genetic Counseling
|November 5, 2024
PubMed
Summary

Parental genetic testing for childhood hearing loss is low due to barriers like cost and lack of awareness. Many parents also lack adequate pre- and post-test counseling, leading to confusion about results.

Keywords:
barrierscaregivergenetic counselinggenetic evaluationpediatric hearing loss

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Area of Science:

  • Genetics
  • Pediatrics
  • Audiology

Background:

  • Genetic testing is crucial for understanding the etiology of hearing loss in children.
  • Parental perceptions and experiences with genetic testing are vital for improving uptake and care.
  • Current integration of genetic testing into audiology practices remains suboptimal.

Purpose of the Study:

  • To evaluate parent perceptions and experiences with genetic testing for childhood hearing loss.
  • To identify barriers preventing families from pursuing genetic testing.
  • To assess the adequacy of genetic counseling provided to parents.

Main Methods:

  • A 44-item questionnaire, The Parent Perception of Genetic Testing Questionnaire, was administered.
  • Participants were recruited from a pediatric otolaryngology/audiology practice and social media.
  • 146 parents of children with hearing loss completed the survey.

Main Results:

  • Only 47.6% of children underwent genetic testing; common barriers included lack of awareness, cost, and not being offered testing.
  • Over half of parents did not receive pre-test counseling (55.1%), and many were confused by results, especially variants of uncertain significance.
  • Less than half recalled information on the mode of inheritance (43.4%).

Conclusions:

  • There is a low adoption rate of genetic testing for childhood hearing loss.
  • Inadequate pre- and post-test counseling contributes to parental confusion and low uptake.
  • Enhanced collaboration between hearing healthcare professionals and geneticists is needed to improve access and counseling.