2026 Early Hearing Detection & Intervention Conference
March 15-17, 2026 • Jacksonville, FL
| A Sponsored Genetic Testing and Counseling Program for Sensorineural Hearing Loss Reduces Barriers to Genetic Testing
A Sponsored Genetic Testing and Counseling Program for Sensorineural Hearing Loss Reduces Barriers to Genetic Testing
Background: More than 60% of congenital hearing loss is due to an underlying genetic cause. However, genetic testing for hearing loss is not widely utilized. Understanding the genetic cause can help in better managing the condition, predicting its progression, and determining chance of recurrence for family members. It can also determine potential eligibility for gene therapy clinical trials. Barriers such as insurance reimbursement, patient costs, provider education gaps, availability of genetic services, and logistical challenges often prevent patients from accessing genetic testing.
Methods: To overcome these barriers, a no-charge genetic testing program was launched in June 2024 in the U.S., Brazil, and Mexico. Testing was performed using a comprehensive panel of 274 genes associated with hearing loss. Individuals under 40 years of age in the U.S. with at least one of the following are eligible: 1) bilateral sensorineural hearing loss of moderate, moderately severe, severe, or profound degree, 2) auditory neuropathy. No-charge genetic counseling is also available through the U.S. program.
Results: From June 2024 to August 2025, 1,303 patients received genetic testing and 522 received genetic counseling. Over 40% of referrals came from otolaryngologists or audiologists. The overall genetic diagnostic rate was 33% while children under 2 years of age had a 42% diagnostic rate. Genetic diagnoses varied across age of onset, ancestry, and severity of hearing loss. The most common non-syndromic diagnoses were associated with GJB2 and STRC. A syndrome was not suspected in 70% of patients with potentially syndromic diagnoses.
Discussion: This no-charge genetic testing and counseling program for hearing loss was quickly adopted by otolaryngologists and audiologists and provided valuable genetic information. This information may aid in better patient care by identifying syndromic conditions early, predicting the progression of hearing loss, and identifying potential participants for gene therapy clinical trials.
- Describe how a genetic diagnosis in sensorineural hearing loss can inform care and family decision making
- Understand the most frequently diagnosed types of genetic hearing loss
- Utilize sponsored genetic testing and counseling programs to remove some of the key barriers to genetic testing
Presentation:
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Handouts:
Handout is not Available
Transcripts:
CART transcripts are NOT YET available, but will be posted shortly after the conference
Presenters/Authors
Kathy Lennon
(Primary Presenter,Co-Presenter), Eli Lilly and Company, kathleen.lennon@lilly.com;
Kathy Lennon is an employee of Eli Lilly and Company
ASHA DISCLOSURE:
Financial -
• Receives Salary for Employment from Employee.
• Receives Salary for Employment from Emplyee.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
Financial -
Financial relationship with Lilly a Medicine Company.
Nature: Minority shareholder in Lilly a medicine company.
Nonfinancial -
No relevant nonfinancial relationship exists.
Ashley Cannon
(Co-Presenter), InformedDNA, acannon@informeddna.com;
Ashley Cannon is an employee of InformedDNA
ASHA DISCLOSURE:
Financial -
• Receives Salary for Employment from InformedDNA.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
Financial -
Financial relationship with InformedDNA.
Nature: Ashley Cannon is an employee of InformedDNA.
Nonfinancial -
No relevant nonfinancial relationship exists.
Jennifer Pappadakis
(Co-Author), Eli Lilly and Company, jennifer.pappadakis@lilly.com;
Jennifer Pappadakis is an employee of Eli Lilly and Company.
ASHA DISCLOSURE:
Financial -
• Receives Salary,Ownership interest for Employment from Eli Lilly and Company.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
Financial -
Financial relationship with Eli Lilly and Company, InformedDNA.
Nature: Employment and minority shareholder.
Nonfinancial -
No relevant nonfinancial relationship exists.
Kathy Reape
(Co-Author), Eli Lilly and Company, Kathleen.reape@lilly.com;
Kathy Reape is an employee of Eli Lilly and Company.
ASHA DISCLOSURE:
Financial -
Nonfinancial -
AAA DISCLOSURE:
Financial -
Nonfinancial -
Aaron Tward
(Co-Author), Eli Lilly and Company, Aaron@example.com;
Aaron Tward, MD, PhD, is a board-certified, fellowship-trained surgeon who specializes in the diagnosis and treatment of disorders of the ear and skull base. He is an Associate Professor of Otolaryngology Head and Neck Surgery at the University of California, San Francisco and the Chief Scientific Officer at Akouos Inc. (a wholly owned subsidiary of Eli Lilly). Dr. Tward has particular clinical interests in cochlear implantation, management of benign and malignant tumors of the skull base including acoustic neuroma (vestibular schwannoma), surgery for chronic otitis media, stapedectomy, superior semi-circular canal dehiscence repair, and endoscopic surgery of the ear and skull base. Dr. Tward’s research interests include tumor biology, the genetics and genomics of disorders of the head and neck, the development and physiology of the organs of hearing, and clinical outcomes of surgery of the ear and skull base.
ASHA DISCLOSURE:
Financial -
Nonfinancial -
AAA DISCLOSURE:
Financial -
Nonfinancial -