Genetics of Pediatric Hearing Loss in the Age of Precision Medicine, in partnership with the American Academy of Audiology
Course: #40905Level: Intermediate 1 Hour 234 Reviews
Most pediatric sensorineural hearing loss has a genetic etiology, and understanding that etiology has important implications for patients. This course will cover standard practices in the field of clinical genetics for hearing loss, review implications of diagnosis, and discuss how audiologists can play a role in the genetic counseling experience.
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Learning Outcomes
- After this course, participants will be able to describe key concepts and define terms used in the genetic diagnosis, evaluation, and management of pediatric sensorineural hearing loss.
- After this course, participants will be able to describe current clinical practices in the genetic evaluation and diagnosis of pediatric sensorineural hearing loss, including implications for patients.
- After this course, participants will be able to identify avenues for collaboration between audiology professionals and genetic counselors at their place of employment.
Course created on November 5, 2025
Agenda
| 0-5 Minutes | Introduction |
| 5-15 Minutes | SNHL genetics background |
| 15-30 Minutes | Genetic testing practices and implications for SNHL |
| 30-40 Minutes | Integrating SNHL genetic testing into clinical practice |
| 40-45 Minutes | Demonstrative case example |
| 45-55 Minutes | Future directions and considerations |
| 55-60 Minutes | Summary and Q&A |
Reviews
234 ReviewsPresented By
Margaret Kenna
MD, MPH
Director of Clinical Research, Department of Otolaryngology, Boston Children's Hospital
Dr. Margaret Kenna conducts research on the causes of pediatric hearing loss, including genetics, congenital cytomegalovirus, and structural anomalies of the temporal bone. Along with Shelby Redfield, MS, CGC, and Eliot Shearer, MD, PhD, her group has recently identified a new hearing loss gene, become involved in first-in-human gene therapy for hearing loss, and participates in prenatal genetic testing for hearing loss.
Dr. Kenna received her undergraduate degree from the University of Pennsylvania and her MD from Boston University School of Medicine. She completed a residency in Otolaryngology-Head and Neck Surgery at the University of Arkansas for Medical Sciences, a Pediatric Otolaryngology Fellowship at Children’s Hospital of Pittsburgh, and a Master’s in Public Health at the Harvard School of Public Health.
Dr. Kenna co-founded the Boston Children’s Hospital Pediatric Cochlear Implant Program and was its Director from 1995-2003. Since 2003, she has been the Director of Clinical Research in the Dept. of Otolaryngology, Boston Children’s Hospital, and is Director of the Hearing Loss Program.
She is a founding member of the Universal Newborn Hearing Screening Advisory Committee of the Massachusetts Department of Public Health, the Harvard Medical School Center for Hereditary Deafness, the Massachusetts Coalition for Congenital CMV, the Usher Syndrome Coalition, and the American Society for Pediatric Otolaryngology.
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Shelby Redfield
MS CGC
Shelby Redfield, MS CGC, is a genetic counselor in the Department of Otolaryngology and Communication Enhancement at Boston Children’s Hospital and a member of the Translational Hearing Genomics Lab. Her clinical practice brings personalized, passionate genetic counseling to patients and families with sensorineural hearing loss. She is the clinical research manager for genomics research efforts within the Department of Otolaryngology at Boston Children’s. Her research interests include hearing loss gene discovery, expansion of known phenotypic spectrums of rare genetic conditions, and identification of novel variants in hearing loss genes using cutting-edge sequencing technologies. She received her Master’s in Genetic Counseling from Boston University.
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Financial: Margaret Kenna is employed by Boston Children's Hospital. She received an honorarium for this presentation.
Non-financial: Margaret Kenna has no relevant non-financial relationships to disclose.
Financial: Shelby Redfield is employed by Boston Children's Hospital and serves as a consultant for Eli Lilly and Company and for Skylark Bio. She received an honorarium for this presentation.
Non-finaincial: Shelby Redfield has no relevant non-financial relationships to disclose.
Sponsor Disclosure: This course is presented in partnership with the American Academy of Audiology.
Content Disclosure: This learning event does not focus exclusively on any specific product or service.
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American Academy of Audiology
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American Speech-Language-Hearing Assn.
Intermediate Level
0.10 ASHA CEUs
British Academy of Audiology
This course has been accredited with 1.00 CPD point/s by the British Academy of Audiology.
Canadian Academy of Audiology
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International Hearing Society
This program is approved by the International Hearing Society and its educational committee, the International Institute for Hearing Instruments Studies. To learn more about earning IHS CE Credit, click here.
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Kansas Department for Aging and Disability Services
Kansas Department of Health and Environment: Approved for 1.00 continuing education clock hours for Kansas licensed Audiologists by the Kansas Department for Aging and Disability Services. Long-Term Sponsorship number LTS-S0035.
New Zealand Audiological Society
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American Board of Audiology
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