2024 Early Hearing Detection & Intervention Conference
March 17-19, 2024 • Denver, CO
3/06/2023 | 3:15 PM - 3:45 PM | Barriers to genetic testing for hearing a loss: A real-world survey | DECC 203/204
Barriers to genetic testing for hearing a loss: A real-world survey
Two to three of every 1000 children born in the United States are born with hearing loss. Genetically driven protein deficiencies account for over 50% of these congenital hearing loss cases. Therefore, genetic testing is a key component of the diagnostic process for children with hearing loss as recognized by the American College of Medical Genetics and Genomics guidelines. However, children identified as deaf or hard of hearing with hearing aid or cochlear implant claims from 2017-2019 reveal that only 16% completed genetic testing.
We conducted a real-world survey to understand key barriers to genetic testing and discuss potential solutions.
Blinded interviews were administered to evaluate clinicians’ views of genetic testing in the diagnostic process of congenital hearing loss at five institutions. All institutions were children’s hospitals ranging in type from academic, community, to independent hospitals. A pediatric audiologist, pediatric otologist, geneticist and genetic counselor from each institution were interviewed separately.
Twenty clinician interviews were included in the analysis (5 pediatric otologist, 5 pediatric audiologists, 5 geneticists and 5 genetic counselors). The five institutions varied considerably in their genetic testing process design. Barriers to genetic testing for patients with congenital hearing loss were identified by clinicians as occurring along the entire patient journey. From initial testing recommendation by the pediatric otologist, through the caregiver decision process, the scheduling of the genetics appointment, and then conducting the genetic test. Benefits, total yields, and underlying causes were also evaluated.
Identifying the barriers to genetic testing in different institutions with different processes gave rise to potential solutions. Initiatives such as providing education and support to clinicians and caregivers, highlighting clinical evidence showing benefits of early genetic testing, and addressing process issues and structural constraints, could help reduce barriers to testing for patients with congenital hearing loss.
- The participant will understand the prevalence of genetic hearing loss.
- The participant will become familiar with the barriers to genetic testing for patients with hearing loss
- The participant will be able to list the benefits of genetic testing for patients with hearing loss.
Presentation:
3420032_15603TeraQuigley.pdf
Handouts:
Handout is not Available
Transcripts:
CART transcripts are NOT YET available, but will be posted shortly after the conference
Presenters/Authors
Tera Quigley
(Primary Presenter,Author), Decibel Therapeutics, tquigley@decibeltx.com;
Tera Quigley is a research audiologist and Associate Director of Medical Affairs at Decibel Therapeutics. Tera earned her Doctorate of Audiology at Indiana University Bloomington. She worked as a clinical and research audiologist at Indiana University from 2012 through 2016. She then worked as a research audiologist at the University of South Florida from 2016 through 2018 before moving to Boston to work at Decibel where she's been for the past 5 years.
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Paul Sommer
(Co-Author), Decibel Therapeutics, psommer@decibeltx.com;
Paul Sommer is Global Head of Patient Experience and Innovation at Decibel Therapeutics. His focus is to ensure optimal patient-/caregiver-centric engagement throughout clinical development of gene therapies for children with hearing loss. Prior to joining Decibel, Paul spent nine years at Geisinger as Senior Director of Patient Experience and Customer Relationship Management (CRM) Prior to joining Geisinger, Paul spent six years as an Accenture consultant for Fortune 500 healthcare companies and eight years successfully leading patient engagement, advocacy, education and marketing programs for life science companies , including Hologic and Biogen. Paul also spent seven and fourteen years on the board of directors for the Alexander Graham Bell Association for the Deaf and Hard of Hearing and the Helen Beebe Speech and Hearing Center, respectively. He has also served in various advisory capacities for Google, Salesforce, StayWell (WebMD), CipherHealth, and The Beryl Institute. Paul holds an MBA from Haverford College and an MBA from FW Olin Graduate School of Business at Babson College. He is also a Certified Patient Experience Professional (CPXP) via The Patient Experience Institute.
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Vassili Valayannopoulos
(Co-Author), Decibel Therapeutics, vvalayannopoulos@decibeltx.com;
Vassili Valayannopoulos, MD, PhD, MBA, is the Clinical Program Lead for Auditory Sciences and Rare Disease at Regeneron and is responsible for all clinical activities of gene therapy programs for congenital hearing loss. He has over 20 years of experience in the rare disease and gene therapy space, both in academia and in the pharmaceutical industry, and is passionate about developing innovative therapies for patients with unmet medical needs. Dr. Valayannopoulos has a strong background in pediatric metabolic medicine, clinical genetics, and pediatric neurology, and is board certified in these specialties. He has conducted clinical research in collaboration with Institute IMAGINE at Necker, focusing on neurodegenerative metabolic diseases, gene therapy, and lysosomal storage disorders. He has also served as a principal investigator and coordinator in several clinical trials, both academic and industry sponsored, and has published numerous peer-reviewed journal articles. Dr. Valayannopoulos also has an MBA from MIT Sloan School of Management, which has enhanced his strategic and operational skills in clinical development and medical affairs.
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Jonathon Whitton
(Co-Author), Decibel Therapeutics, jwhitton@decibeltx.com;
Jonathon Whitton is a clinician-scientist and the senior vice president of clinical research and development at Decibel Therapeutics. Prior to joining Decibel in 2016, Jonathon conducted clinical research with people living with hearing loss at the Cincinnati Children’s Hospital Medical Center and Massachusetts Eye and Ear Infirmary. Jonathon is active in the American Academy of Audiology where he is a member of the Scientific Advisory and Research Council and chairs the annual translational research meeting in conjunction with the national conference. Jonathon received his Au.D. from the University of Louisville and his Ph.D. in Health Sciences and Technology from the Massachusetts Institute of Technology.
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