2024 Early Hearing Detection & Intervention Conference
March 17-19, 2024 • Denver, CO
| Utilization of Genetics Services in the Diagnosis of Hearing Loss in Newborns in the State of Ohio
Utilization of Genetics Services in the Diagnosis of Hearing Loss in Newborns in the State of Ohio
Background: In 50-60% of newborn HL cases, the etiology is genetic. The importance of a genetic evaluation is recognized by several national organizations, including the ACMG, AAP JCIH, and AJA. This study aimed to (1) evaluate provider practice patterns, beliefs, and knowledge of the role of genetics in the medical diagnosis of newborn HL and (2) assess parent experience and knowledge of the role of genetics in the diagnostic process for their newborn with HL. Methods: Two surveys were designed using published guidance on optimal care of newborns with HL. The surveys were administered in Ohio. Participants included providers (ENTs and audiologists) and parents of a newborn with confirmed HL born between 1/2017-12/2018. Results: 95 provider (14 ENT; 81 audiologist) and 39 parent responses were included in analysis. Providers favored a multidisciplinary care model and most frequently selected the pediatric audiologist, ENT, EI specialist, and SLP as part of the care team. Only 46% of families (n=18) reported receiving genetics services. Parents report the ENT as the provider who most commonly discussed genetics (n=16/57%). Regarding pursuing a genetics evaluation, 16% of families (n=6) who answered the question already had a genetic diagnosis, of those who did not, 53% (n=17/32) were likely/very likely, 25% (n=8/32) were unsure, and 22% (n=7/32) were unlikely/very unlikely. Conclusions: Multidisciplinary care for newborn HL is common in Ohio, yet less than half of families receive genetic services. However, a majority of parents of children with HL report an interest in receiving genetic services. While providers generally follow existing guidance regarding a genetic evaluation for newborn HL, there is inconsistent implementation resulting in an unreliable standard of patient care. The results of this study seek to inform guidance refinement efforts in the State of Ohio and may provide a template for evaluation of practice in other states.
- Participants will be able to understand when a genetic referral is warranted in the setting of NHL
- Participants will be able to identify key providers who have responsibility to discuss the recommendation of a genetic referral with the family of an infant with NHL
- Participants will be able to support families through informed decision making when discussing a genetic referral for NHL
Presentation:
23278_13586CaraBarnett.pdf
Handouts:
Handout is not Available
Transcripts:
CART transcripts are NOT YET available, but will be posted shortly after the conference
Presenters/Authors
Cara Barnett
(POC,Primary Presenter,Co-Author), Cincinnati Children's Hospital Medical Center, cara.barnett@cchmc.org;
Cara Barnett is a licensed and certified genetic counselor in the Heart Institute at Cincinnati Children's Hospital Medical Center. She received her Master of Science degree in May 2020 from The Ohio State University. Cara is passionate about working to ensure all families have access to genetics services, health equity, the genetics of newborn hearing loss and cardiovascular genetics.
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Elizabeth Jordan
(Co-Author), CCHMC, elizabeth.jordan@osumc.edu;
Elizabeth Jordan is an assistant professor of medicine and a licensed and certified genetic counselor in the Division of Human Genetics at The Ohio State University. Elizabeth completed her training at Emory University in Atlanta, Georgia, and was a faculty member at the University of Louisville in Kentucky, practicing in general genetics, cancer genetics, and cardiovascular genetics prior to joining Ohio State’s faculty in 2017.
Elizabeth practices clinically at the Ross Heart Hospital in the Cardiovascular Genetic and Genomic Medicine Clinic as well as the Inherited Arrhythmia Clinic. Elizabeth has research interests in variant adjudication and is the lead genetic counselor in the dilated cardiomyopathy research project.
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Prashant Malhotra
(Co-Author), Nationwide Children's Hospital, Prashant.Malhotra@nationwidechildrens.org;
Prashant Solanki Malhotra, MD, FAAP, is a member of the Department of Otolaryngology and the Hearing Program at Nationwide Children’s Hospital and an Assistant Professor in the Department of Otolaryngology – Head and Neck Surgery at The Ohio State University College of Medicine. Dr. Malhotra received his medical degree from Case Western Reserve University, Cleveland, Ohio, in 2004. He completed an internship in General Surgery at Thomas Jefferson University Hospital, and completed his residency in Otolaryngology, Head and Neck Surgery at Thomas Jefferson University Hospital and Alfred I. duPont Hospital for Children. He spent an additional year as a fellow and clinical instructor of Pediatric Otolaryngology at Lucile Packard Children’s Hospital, Stanford University. Dr. Malhotra’s clinical and research interests primarily focus on problems relating to pediatric hearing loss and cochlear implantation, pediatric head and neck masses including malignancies, and all other aspects of pediatric otolaryngology and facial reconstructive surgery.
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Allyson Van Horn
(Co-Author), The Ohio Department of Health, Allyson.VanHorn@odh.ohio.gov;
Allyson Van Horn, MPH, MEd is the State of Ohio Early Hearing Detection and Intervention Coordinator and manages the Infant Hearing Program, Children’s Hearing Program, Children’s Vision Program and the Save Our Sight Program. Allyson has over 10 years’ experience with statewide programs that focus on early detection, diagnosis and treatment of children with hearing and vision problems. She has given many presentations on the importance of evidenced-based screening practices in the primary care, childcare and school settings. Allyson also participates on various statewide initiatives to improve hearing and vision screening, diagnostic and treatment rates.
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