Integrating Genetics Into Pediatric SNHL Care Planning: The Role of Audiology

Introduction

In this module, Jennifer Butler, AuD, discusses the latest developments in genetic testing and gene therapy for pediatric sensorineural hearing loss (SNHL). Learn how the understanding of genetics linked to pediatric hearing loss has recently evolved, why all children with SNHL should receive genetic testing, as well as the role audiology healthcare professionals (HCPs) play in ensuring families can access timely hearing interventions and communication support.

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 is a 9-week-old baby with bilateral moderate to severe SNHL. He has no other unusual physical findings. His family has no history of hearing loss. Which response best reflects what an audiology HCP should know when discussing genetic testing strategies with this patient’s care team?

A.
GJB2/GJB6 testing is often a reasonable starting point because these genes are common contributors to pediatric SNHL; broader testing can be added later if the initial result is negative
B.
Syndromic SNHL-related genes generally can be excluded when patients have no visible syndromic features, and comprehensive gene panels may increase uncertain findings without changing immediate management planning
C.
Genetic testing should be deferred until amplification outcomes are known because early benefit with hearing aids and behavioral audiometry can help determine whether etiologic testing is clinically necessary
D.
A comprehensive gene panel for hearing loss is preferred when no etiology is known, and it should include sequencing plus deletion/duplication analysis for relevant genes

Your patient is a 9-week-old baby with bilateral moderate to severe SNHL. He has no other unusual physical findings. His family has no history of hearing loss. There is a 4-month wait for the local genetics clinic, and the family asks whether any further testing should wait until a geneticist sees their baby.

What is the best audiology-aligned recommendation?

A.
Recommend completing genetic testing and counseling before fitting amplification because etiologic results may clarify prognosis and inform whether hearing aids should be initiated or modified
B.
Explain that hearing aids and early intervention address Mateo’s immediate needs, so genetic testing and counseling can be considered optional unless the family wants to know their recurrence risk later
C.
Encourage the care team to proceed with standard care immediately and coordinate a genetic testing referral; genetic testing may proceed through the appropriate HCP if consent, billing review, and counseling are in place
D.
Suggest using a commercially available, direct-to-consumer genetic test while the family waits for their referral to genetic testing because it may provide preliminary information that can be reviewed later

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Integrating Genetics Into Pediatric SNHL Care Planning: The Role of Audiology

Jennifer L. Butler, AuD, CCC-A, CH-AP

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 is a 9-week-old baby with bilateral moderate to severe SNHL. He has no other unusual physical findings. His family has no history of hearing loss. Which response best reflects what an audiology HCP should know when discussing genetic testing strategies with this patient’s care team?

What is the best audiology-aligned recommendation?

Integrating Genetics Into Pediatric SNHL Care Planning: The Role of Audiology

Jennifer L. Butler, AuD, CCC-A, CH-AP

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 is a 9-week-old baby with bilateral moderate to severe SNHL. He has no other unusual physical findings. His family has no history of hearing loss. Which response best reflects what an audiology HCP should know when discussing genetic testing strategies with this patient’s care team?

What is the best audiology-aligned recommendation?

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