Evaluating parental genetic knowledge of hearing loss with and without pre‐test genetic counseling in a pediatric otolaryngology clinic

Davis, Douglas A.; Oakes, Lisa M.; Raol, Nikhila; Mighion, Lindsey; Dedhia, Kavita

doi:10.1002/jgc4.1404

Journal of Genetic Counseling

2021

DOI: 10.1002/jgc4.1404

|View full text |Cite

Evaluating parental genetic knowledge of hearing loss with and without pre‐test genetic counseling in a pediatric otolaryngology clinic

Douglas A. Davis¹,

Lisa M. Oakes

Nikhila Raol

et al.

Abstract: In the United States, two to three out of 1,000 children are born deaf or hard-of-hearing and 4-11 per 10,000 children have profound, early-onset hearing loss (Alford, Amos, et al., 2014;Marazita et al., 1993). Approximately 60% of educationally significant congenital and early-onset hearing loss is due to a genetic etiology (Alford, Amos, et al., 2014). The majority, 70%, of genetic sensorineural hearing loss (SNHL) is non-syndromic. Today, over 100 genes are known to be associated with non-syndromic SNHL (Al… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2024

Publication Types

Select...

Article2

Relationship

Self Cite0

Independent2

Authors

Journals

Cited by 2 publications

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Survey of patient satisfaction with genetic counseling services in Korea

Choi,

Kim,

Yang

et al. 2024

Journal of Genetic Counseling

View full text Add to dashboard Cite

Since the 1990s, genetic clinics have been established in South Korea, enabling the provision of clinical genetics services. However, genetic counseling services are not widely used in the medical system. In contrast, recently, the demand for genetic counseling has increased due to the rapid development of genomic medicine. Therefore, it is important for medical geneticists and genetic counselors to collaboratively provide genetic counseling services. This study aimed to evaluate the perception and satisfaction of patients with rare genetic diseases and their families regarding genetic counseling services provided by a genetics team at the medical genetics center of a tertiary general hospital for rare genetic diseases. From April to November 2021, a survey was conducted with 203 individuals, including 111 and 92 individuals in the patient and family groups, respectively. Overall, 164 individuals (80.8%) responded that they were aware of genetic counseling services, and 135 individuals (66.5%) responded that they were aware of the role of genetic counselors. Patients and their families wanted to receive information about the following from genetic counseling: clinical manifestation and prognosis of the diagnosed disease (78.8%), treatment and management of the disease (60.6%), risk of recurrence within the family (55.7%), treatment options and alternatives for family and prenatal testing, and various support services. The score of satisfaction with genetic counseling services provided by the genetics team was 8.19 ± 1.68 out of 10. Patients with rare genetic diseases and their families were satisfied with genetic counseling services regarding their diseases, test results, and treatment options. Moreover, the patients could receive psychosocial support and referrals to other medical service providers and support services. As a genetic team approach, collaboration between medical geneticists and certified genetic counselors would be useful in providing information and in diagnosing, treating, and managing patients.

show abstract

Survey of patient satisfaction with genetic counseling services in Korea

Choi,

Kim,

Yang

et al. 2024

Journal of Genetic Counseling

View full text Add to dashboard Cite

show abstract

Parent experiences with genetic testing for pediatric hearing loss

Cejas,

Coto,

Sarangoulis

et al. 2024

Journal of Genetic Counseling

View full text Add to dashboard Cite

The purpose of the current study was to assess parent perceptions and experiences of genetic testing, as well as barriers for not undergoing testing in a sample of families of children with hearing loss. A 44‐item questionnaire, The Parent Perception of Genetic Testing Questionnaire developed by the research study team was administered. Participants were recruited from a pediatric otolaryngology/audiology practice and social media. A total of 146 parents of children with hearing loss participated. Approximately 47.6% of the children in our sample underwent genetic testing, 44.8% did not, and 7.6% of parents were unsure. For those that did not undergo testing, reasons included: unaware (6.2%), not interested (8.9%), cost (8.9%), time (3.4%), fearful of results (2.7%), and never offered (15.1%). For those that did undergo testing, over half of the parents reported that they did not receive counseling before (55.1%) and 41.7% reported they received counseling after the testing. Furthermore, parents were confused about the results with 18.3% reporting they were Very Confused, 28.3% Somewhat Confused, 20% A Little Confused, and 33.3% Not Confused at All about the variant of uncertain or unknown significance. Notably, less than half of parents (43.4%) remembered what they were told about the mode of inheritance. Overall, our study highlighted the low adoption rate of genetic testing and lack of integration into standard of care for otology/audiology practices. Collaboration between hearing healthcare professionals and geneticists is warranted to determine how to reduce barriers to access while improving pre‐ and post‐counseling.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Evaluating parental genetic knowledge of hearing loss with and without pre‐test genetic counseling in a pediatric otolaryngology clinic

Cited by 2 publications

References 21 publications

Survey of patient satisfaction with genetic counseling services in Korea

Survey of patient satisfaction with genetic counseling services in Korea

Parent experiences with genetic testing for pediatric hearing loss

Contact Info

Product

Resources

About