Integrating Genotype Into Counseling and Management Planning in Pediatric Sensorineural Hearing Loss: The Role of Genetic Counselors

Introduction

In this module, Amanda M. Odell, MS, LGC, discusses the latest developments in genetic testing and counseling for pediatric sensorineural hearing loss (SNHL). Learn how the genetics linked to pediatric hearing loss have recently evolved, why it is important for all children with SNHL to receive genetic testing and counseling, and the role genetic counselors have in ensuring families have access to the novel interventions for which patients qualify.

Before continuing with this educational activity, please take a moment to answer the following questions.

How many people with SNHL do you provide care for in a typical week?

A.
1-4
B.
5-10
C.
11-15
D.
16-20
E.
>20
F.
Not applicable

For those who practice in academic or community settings, please indicate your practice setting:

A.
Academic
B.
Community
C.
Not applicable

Your patient has bilateral moderate to severe SNHL, biallelic pathogenic SLC26A4 variants, and bilateral enlarged vestibular aqueducts. Which counseling approach is most appropriate?

A.
Explain that the genotype confirms a stable nonsyndromic hearing loss pattern, reassure the family that progression is unlikely, and recommend routine audiology follow-up only if the parents notice a major change
B.
Recommend immediate cochlear implantation based on the genetic diagnosis because SLC26A4-related hearing loss is uniformly progressive, and hearing aids are unlikely to provide meaningful benefit
C.
Focus counseling primarily on recurrence risk because the genotype does not provide useful information about prognosis, hearing technology planning, or the need for interdisciplinary follow-up
D.
Explain that the genotype is concordant with her phenotype, discuss the possibility of fluctuating or progressive hearing loss, recommend close audiologic monitoring, and coordinate with otolaryngology regarding imaging and management planning

Your patient is a 7-month-old boy with bilateral severe to profound SNHL and biallelic pathogenic OTOF variants. His parents ask whether they should stop cochlear implant planning because a gene therapy has been approved for OTOF-related hearing loss. Which counseling response is most appropriate?

A.
“Because your child has biallelic OTOF-related SNHL, gene therapy evaluation is clinically relevant and should be pursued with an experienced treatment center; at the same time, standard hearing management and cochlear implant planning should continue so that language access is not delayed”
B.
“Because gene therapy is now approved for OTOF-related hearing loss, you should pause all cochlear implant planning and hearing intervention decisions until a treatment center confirms whether he can receive gene therapy”
C.
“Because cochlear implants are established and gene therapy is newer, you should complete cochlear implantation first and revisit gene therapy only if implant outcomes are poor”
D.
“Because your child has a confirmed genetic diagnosis, you can be reassured that gene therapy will likely replace the need for amplification, early intervention, or cochlear implant evaluation”

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Integrating Genotype Into Counseling and Management Planning in Pediatric Sensorineural Hearing Loss: The Role of Genetic Counselors

Amanda M. Odell, MS, LGC

Activity

Introduction

How many people with SNHL do you provide care for in a typical week?​

For those who practice in academic or community settings, please indicate your practice setting:

Your patient has bilateral moderate to severe SNHL, biallelic pathogenic SLC26A4 variants, and bilateral enlarged vestibular aqueducts. Which counseling approach is most appropriate?

Your patient is a 7-month-old boy with bilateral severe to profound SNHL and biallelic pathogenic OTOF variants. His parents ask whether they should stop cochlear implant planning because a gene therapy has been approved for OTOF-related hearing loss. Which counseling response is most appropriate?

How many people with SNHL do you provide care for in a typical week?