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

CE / CME

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

Physician Assistants/Physician Associates: 0.50 AAPA Category 1 CME credit

Physicians: maximum of 0.50 AMA PRA Category 1 Credit™

Nurse Practitioners/Nurses: 0.50 Nursing contact hour

Released: July 30, 2026

Expiration: July 29, 2027

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

CME/CE Information

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Course Completed

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Genetic Testing in Audiology Evaluation

Audiology HCPs often are the first to confirm hearing loss in newborns and counsel families after diagnosis. Although these HCPs do not need to function as experts in genetics, they should be able to recognize when genetic testing is indicated, explain why it matters for management planning, and identify if a proposed gene panel is appropriate. In addition, audiology HCPs should be able to coordinate referrals for multidisciplinary care and help families navigate barriers, including reimbursement and access, to ensure timely intervention for their newborn with SNHL.

In illustrating these needs, the Joint Committee on Infant Hearing emphasizes coordinated, family-centered care that includes educational, audiologic, and medical management planning for pediatric patients with hearing loss.¹ The American Speech-Language-Hearing Association similarly describes the management of pediatric hearing loss as a family-centered, multidisciplinary process involving audiology, speech-language pathology, otolaryngology, primary care, and other specialties as needed.⁴

In this module, I will discuss the integration of genetic testing into counseling and management planning for pediatric SNHL where there is a confirmed diagnosis of genetic hearing loss. Through practical patient case examples, we will practice identifying implications, distinguishing actionable findings from uncertainty, and communicating intervention and surveillance recommendations to families through a family-centered and multidisciplinary care approach.

Patient Case 1: Mateo, 9-Week-Old Boy With Bilateral Moderate to Severe SNHL

As an audiologist practicing in a community outpatient clinic, you are with Mateo and his family. Mateo is a 9-week-old boy presenting for referral after his newborn hearing screen. Diagnostic auditory brainstem response (ABR) confirmed bilateral moderate to severe SNHL. His current care team includes audiology and primary care, with a referral to otolaryngology pending.

There is no evidence of middle ear effusion on tympanometry, and an otoacoustic emissions test shows absence bilaterally.

Mateo’s mother carried him to full term without a neonatal intensive care unit stay. There is no known history of meningitis, exchange transfusion, or documented ototoxic exposure. Mateo’s parents also have no known history of childhood hearing loss.

Physical findings reported by Mateo’s parents and primary care provider (PCP) identify no known renal, cardiac, vision, craniofacial, pigmentary, or developmental concerns at this time.

Mateo’s PCP mentioned the need for genetic testing to his parents. They tell you, “We just found out that Mateo has hearing loss, and now people are mentioning genetic testing. Is that necessary? Will our health insurance cover it?”

The Role of Audiology

When families present for diagnostic follow-up for a child with SNHL, the immediate priorities for audiology HCPs include confirming and clearly documenting the diagnosis. Then they should ensure timely access to amplification and early intervention referral for the family.

Because genetic testing is now recommended for all pediatric patients with SNHL, audiology HCPs should communicate to families that genetic testing should not delay access to standard management planning even though it is recommended to confirm an etiologic diagnosis. Furthermore, these HCPs can help families like Mateo’s understand why genetic testing and counseling are clinically useful.

Finally, audiology HCPs should assist in coordinating the appropriate referrals to otolaryngology, genetics and genomics, ophthalmology, and primary care as needed.^1,4

Mateo’s parents ask whether genetic testing is part of the hearing loss workup or extra. Which response is most appropriate?

A.
“Because Mateo has no known family history of childhood hearing loss, genetic testing is unlikely to add useful information at this point; it would be more appropriate only if another relative is found to have hearing loss.”
B.
“Because Mateo has confirmed bilateral SNHL, genetic testing is appropriate to consider; it may help identify etiology as well as inform prognosis and surveillance needs.”
C.
“Mateo’s immediate hearing needs, including amplification and early intervention, should come first; it is reasonable to wait for genetic testing until behavioral audiometry provides more information about his hearing levels.”
D.
“The most practical first step is for audiology to coordinate limited, single-gene testing like GJB2/GJB6 because broader genetic testing is more difficult to interpret and less efficient in community practice.”

Feedback on Including Genetic Testing in the Workup

For audiology HCPs, the key action here is not to order and interpret genetic testing results alone. Rather, they should recognize that a confirmed diagnosis of bilateral SNHL without a known etiology is an indication for genetic testing and counseling with an expert.

This is essential because a genetic diagnosis can inform patients’ prognosis, anticipated benefit from certain hearing interventions, syndromic surveillance needs, recurrence risk, cascade testing when appropriate, and the family’s understanding and future planning.^5,6

Of note, a negative family history does not totally rule out a genetic link to patients’ hearing loss, especially considering inheritance patterns like autosomal recessive, mitochondrial, or X-linked.³ The American College of Medical Genetics and Genomics’ (ACMG’s) clinical practice resource on hearing loss emphasizes the need for an etiologic diagnosis and genetic counseling as part of an informed evaluation for families and children with hearing loss.^1,2

Guideline-Directed Care: What Audiology HCPs Should Know

All children with SNHL should be referred to genetic testing and counseling, including those with^1,2:

Bilateral SNHL
Congenital or prelingual onset
No known acquired etiology
Family history of childhood hearing loss
Progressive, asymmetric, severe to profound, or unusual audiologic findings
Features suggesting syndromic disease, even if subtle
Families or caregivers interested in recurrence risk or prognosis

The role of audiology here is to recognize the indication, educate families, document the recommendation, and coordinate the referral for genetic testing and counseling.

Patient Case 1: Referral for Genetic Testing for Mateo

The referred otolaryngology office contacts your audiology clinic, saying, “We can order gene panel testing for hearing loss. Do you know if a GJB2/GJB6 panel is enough? Should we order a comprehensive gene panel?”

Mateo’s family also asks you whether a comprehensive gene panel is better.

Which response best reflects what an audiology HCP should know when discussing genetic testing strategies with the 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

Feedback on Selecting a Gene Testing Panel

Comprehensive gene panel testing for hearing loss is more appropriate than only testing for GJB2/GJB6 in children with apparent nonsyndromic bilateral SNHL of unknown etiology. In addition, pediatric SNHL is genetically heterogeneous, and some syndromic conditions may initially appear nonsyndromic in infancy.^1-3

Some considerations for choosing the appropriate comprehensive gene panel include whether the test comprises common nonsyndromic and syndromic genes related to genetic hearing loss, sequencing and copy-number variant analysis, technically challenging genes like STRC when relevant, clear reporting of limitations, access to genetic counseling, and support for prior authorization and billing questions.

A common pitfall is hearing from families that genetic testing results are negative, thereby confirming for them that their child’s hearing loss is not genetically related. Later, it is found that the gene panel testing was limited to 1 or 2 genes or lacked deletion/duplication analysis. Hence the need for comprehensive gene panel testing at the first opportunity.

Comprehensive Gene Panel Testing for Hearing Loss

It is important to note that audiology HCPs are not required to memorize every gene in comprehensive gene panel testing for hearing loss. However, they should be able to recognize and speak up when the proposed strategy is too narrow, as would be the case for Mateo and his parents.

Reasonable questions to ask the ordering HCP or lab include:

Is this a comprehensive gene panel rather than only testing for GJB2?
Does the comprehensive gene panel include both sequencing and deletion/duplication analysis?
Does the comprehensive gene panel include genes that are associated with nonsyndromic and syndromic SNHL?
Are technically challenging genes like STRC adequately assessed?
Is genetic counseling available before or after testing?
Will the lab complete a benefits investigation or prior authorization before billing the family?

It is also critical for audiology HCPs to understand that the genetics or ordering HCP might need additional information from families to adequately perform testing and counseling. They will need the preferred selection among equivalent laboratory platforms and direction for interpreting variants of uncertain significance. In turn, the results will tell you if recurrence-risk counseling, cascade testing of relatives, or reproductive counseling should be considered. Finally, genetic testing results can inform surveillance recommendations based on the found genotype.^5,6

Patient Case 1: Genetic Testing Referral Coordination for Mateo

The local genetic testing clinic has a 4-month wait, and the otolaryngology office asks you if testing should be delayed until a genetics expert sees Mateo.

As his audiology HCP, you know that Mateo’s hearing management planning should move forward. Hearing aid evaluation and earmolds, early intervention referral, communication goal setting with his family, and support should not wait for an etiologic diagnosis.

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

Feedback on Timing of Testing

The correct answer reflects audiology HCPs’ real-world role: coordinating care, keeping the standard timeline for management planning moving, and ensuring genetic testing is integrated appropriately.

A referral to genetic testing and counseling remains appropriate for families and children with confirmed bilateral SNHL, suspected syndromic features, a family history of hearing loss or consanguinity, progressive or severe to profound hearing loss, and uncertain, complex, or positive genetic testing results. Families who wish to have counseling about recurrence risk or cascade testing should be referred as well.

In discussions with families about genetic testing for pediatric SNHL, it is important that audiology HCPs avoid presenting this as a prerequisite for amplification or early intervention.

Preventing Common Pitfalls With Genetic Testing and Counseling

There are several pitfalls that audiology HCPs may see in their practice. It is their job to ensure these pitfalls do not keep families and their children with SNHL from accessing standard management planning or novel therapies if eligible.

When families say, “Genetic testing was done,” it might mean that only GJB2 was tested. That is, families may report prior genetic testing without knowing its full scope. This is why audiology HCPs must document the actual test name, laboratory, genes included, and whether copy number variation analysis was performed.

The next pitfall is the assumption that genetic testing is discussed separately from standard care. That is incorrect. Genetic testing should be framed as etiologic and prognostic support; it does not replace early hearing access, communication planning, or intervention for children with SNHL.

Another common pitfall is the idea that negative genetic testing results confirm a nongenetic diagnosis. Of note, a negative result does not exclude a genetic etiology. Rather, it may reflect current knowledge limits, technical limitations, or variants that were not detected by the chosen assay.

Overinterpreting variants of uncertain significance (VUS) comprises another common pitfall. These findings should not be presented to families as diagnostic. Instead, audiologists should defer VUS interpretation or reassessment to the genetics expert or ordering HCP.

Then there is the misconception that syndromic risk should be dismissed because the child appears healthy. Some syndromic forms of genetic hearing loss may not be clinically apparent at an early age. This is one reason comprehensive gene panel testing and appropriate referrals matter.

The final pitfall is that cost concerns should be handled reactively. Families should know before genetic testing whether the lab or ordering practice will complete a benefits investigation, prior authorization, financial assistance screening, or out-of-pocket cost notification.^1-4

For audiology HCPs, an example statement to share with Mateo’s family might look like: “Genetic testing is one part of understanding why Mateo has hearing loss. It will not delay his access to hearing aids or early intervention. The reason we recommend discussing it with otolaryngology, genetics, or your PCP is because some genetic causes of hearing loss can tell us whether Mateo’s hearing may change over time, if other specialists should be involved in his care, and how this could affect your future children or other relatives.

You also are right to ask about cost. Before genetic testing is processed, the ordering team can check your health insurance requirements and ask the lab about benefits coverage, prior authorization, financial assistance, or self-pay caps. You should not be surprised by a bill without having a chance to ask questions first.”

Mateo’s parents say, “We are worried this will cost thousands of dollars.”

What is the best response?

A.
“Genetic testing is commonly considered part of the etiologic workup for pediatric bilateral SNHL, so health insurance usually covers it when the ordering HCP documents medical necessity.”
B.
“That is a valid concern. I can coordinate with the ordering HCP’s office to ensure they discuss your benefits coverage, prior authorization requirements, financial assistance, and estimated out-of-pocket cost with you before testing proceeds.”
C.
“Billing questions are handled by the ordering HCP’s office or laboratory, so the best next step is to contact your health insurer before deciding whether to proceed.”
D.
“If the potential cost feels overwhelming right now, it is reasonable to postpone the discussion until Mateo’s amplification and early intervention plans are established.”
E.
“A lower-cost, direct-to-consumer genetic test may be a practical first step while you are waiting for your genetic testing appointment or insurance authorization.”

Feedback on Cost Counseling

Audiology HCPs do not need to manage health insurance coverage or prior authorization requirements personally, but they can reduce barriers by coordinating with the ordering HCP, genetics team, or laboratory. The best response validates the parents’ concerns and offers a concrete next step without overpromising coverage and low cost.

Which barrier most commonly limits timely genetic testing coordination for families and children with confirmed bilateral SNHL in your practice?

A.
I am unsure when genetic testing is indicated
B.
I am unsure what makes a gene panel appropriate
C.
Genetics testing appointments are difficult to obtain
D.
Otolaryngology or primary care workflows are inconsistent
E.
Families are overwhelmed at their diagnostic visit with me
F.
Reimbursement or billing concerns delay genetic testing
G.
I am uncomfortable explaining the purpose of genetic testing
H.
I am unsure how to document or track genetic testing referrals

How confident are you in your ability to identify an appropriate genetic testing/referral strategy for a family and child with newly confirmed bilateral SNHL?

A.
Not confident
B.
Slightly confident
C.
Moderately confident
D.
Very confident
E.
Extremely confident

Example Etiologic Evaluation/Referral Recommendation

In Mateo’s case, here is an example of the language used in an evaluation and a referral recommendation to pediatric otolaryngology and genetics: “Diagnostic ABR findings are consistent with bilateral SNHL. In accordance with coordinated care, I recommend a timely medical evaluation by pediatric otolaryngology and consideration of genetic testing and counseling for etiologic evaluation. This will include a discussion on comprehensive gene panel testing for hearing loss as appropriate. Genetic testing should proceed in parallel with standard management planning, including amplification, early intervention referral, and family-centered communication support.”

Patient Case 1: Resolution With Mateo and his Family

In resolving the patient case with Mateo and his family, you complete the diagnostic counseling visit and provide the family with clear next steps.

First, visits for hearing aid evaluation and earmold impressions are scheduled. Then you place an early intervention referral and confirm the family’s referral to otolaryngology is in place. You send your audiology report with a recommendation for etiologic evaluation to Mateo’s PCP and recommend a referral for genetic testing and counseling while recognizing possible wait times.

The otolaryngology HCP or PCP will discuss comprehensive gene panel testing for hearing loss with Mateo’s family, including who will complete the benefits investigation and provide genetic counseling.

Finally, you provide Mateo’s family with a brief explanation of why genetic testing matters and whom to contact with billing questions. His parents leave with a care map rather than a list of disconnected referrals.

Key Takeaways

A confirmed bilateral SNHL diagnosis should always trigger a discussion with families about the need for etiologic evaluation, including genetic testing and counseling. With this, audiology HCPs play a critical role in coordinating care even when they are not the ordering HCP.

Furthermore, a comprehensive gene panel for hearing loss is more appropriate than only testing for GJB2, and genetic testing should be ordered for every child with SNHL and an unknown etiology. The gene panel quality matters since sequencing alone may be insufficient. In addition, deletion/duplication analysis and technically robust assessment of relevant genes are important. Referral to genetic testing and counseling should be made for those with complex results or syndromic concern as well as families in need of recurrence risk counseling or cascade testing.

Finally, genetic testing should not delay access to amplification, early intervention, or spoken language support. Audiology HCPs must proactively address families’ reimbursement concerns and barriers by supporting them with clinical and community-based resources (ie, social work, financial navigation, etc).

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