2026 Early Hearing Detection & Intervention Conference
March 15-17, 2026 • Jacksonville, FL
3/16/2026 | 10:35 AM - 11:05 AM | Enhancing Pathways:Streamlining Genetic Referrals for Hearing Loss to Regional Genetic Centers | City Terrace 12
Enhancing Pathways:Streamlining Genetic Referrals for Hearing Loss to Regional Genetic Centers
Purpose: The Joint Commission on Infant Hearing and the American College of Medical Genetics recommend that infants who are diagnosed with hearing loss receive genetic testing/counseling. Tennessee has a robust regional genetic referral system for the newborn screening blood spot tests. Tennessee decided to expand the referral services offered to include a referral to one of the regional genetic centers based on the family’s county of residence. There are over 400 syndromes associated with hearing loss. About 30-50% of infants diagnosed with hearing loss have a genetic component, either syndromic or non-syndromic. Accurate diagnosis of a genetic condition can lead to informed decision-making and personalized interventions. About 150 cases of hearing loss diagnosis are received in Tennessee each year. The goal was to evaluate the incidence of genetic abnormalities among confirmed hearing loss cases referred to the genetics centers.
Method: Each genetic center was contacted and provided with a spreadsheet of each case that was referred to them from March 3, 2021, to April 14, 2025, and asked them to report if the case had completed genetic testing, what the results were, and the reason why if no testing was completed.
Results: During this time, 796 referrals were made. There was a finite outcome for almost 65% of cases. The individuals who had received testing, about 89 cases had a possible genetic syndrome associated with hearing loss, and 30 cases were identified as having a non-syndromic cause for their hearing loss.
Conclusions: Further investigations need to be completed for the individuals who had a pending appointment and those who were not returned with an outcome to determine if there was a possible diagnosis of a syndrome associated with hearing loss. There are implications that families are interested in receiving genetic testing to further investigate the hearing loss diagnosis.
- Describe at least three key considerations before implementing hearing loss referrals to regional genetic centers.
- Identify and discuss three common outcomes of genetic referrals for hearing loss.
- Propose strategies to improve coordination between hearing screening programs and genetic centers.
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Presenters/Authors
Hilary Fryman
(Primary Presenter), Tennessee Department of Health, hilary.fryman@tn.gov;
Hilary Fryman, RN BSN is the Education and Quality Improvement Nurse for the Pediatric Case Management and Newborn Screening Follow-up Program. She has been a Registered Nurse for 17 years and has been in with the Tennessee Department of Health for 8 years. In her current role, she works closely with the Director of Pediatric Case Management and Tennessee Newborn Hearing Screening Program Director to create and update processes and procedures for daily nurse case management task rotations and education for hospitals, midwives, pediatricians, and audiologists. Hilary provides ongoing hospital education and completes visits to hospitals that are need of technical assistance in meeting state benchmarks, such as the initial hearing screening rate and initial fail rates. Hilary has played a key role in several implementations for the newborn screening program such as, Remote Diagnostics Entry Portal for Audiologists. Hilary helps bring awareness to newborn screening by organizing events for Rare Disease Day and CCHD Awareness in February, Speech and Hearing in May, and Newborn Screening Awareness Month in September. Hilary serves as the Co-Chair for the APHL National Continuous Quality Improvement Sub-Committee.
ASHA DISCLOSURE:
Financial -
No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
Financial -
No relevant financial relationship exists.
Nonfinancial -
No relevant nonfinancial relationship exists.
Yinmei Li
(Co-Author), Tennessee Department of Health, yinmei.li@tn.gov;
Dr. Yinmei Li is the lead epidemiologist in the Perinatal, Infant and Pediatric Care section of the Family Health and Wellness division of the Tennessee Department of Health and has been in this role since 2014. Before joining the FHW division, she worked for three years as the chronic disease epidemiologist and then expanded her scope of work to include maternal and child health and injuries as the director of the Surveillance, Epidemiology and Evaluation section for 8 years with the TDH. She received an MD equivalent degree from Shanghai Medical College, Fudan University in China, and a Master’s degree in Experimental Statistics, a Master’s degree in Epidemiology, and a PhD in Veterinary Medical Sciences from Louisiana State University.
ASHA DISCLOSURE:
Financial -
• Receives Grants for Management position from The CDC.
Nonfinancial -
No relevant nonfinancial relationship exists.
AAA DISCLOSURE:
Financial -
Financial relationship with The Centers for Disease Control and Prevention.
Nature: The project is partially supported by the CDC through the EHDI surveillance grant. .
Nonfinancial -
No relevant nonfinancial relationship exists.
Amanda Ingram
(Co-Author), Tennessee Department of Health, amanda.d.ingram@tn.gov;
Amanda Ingram, RN is the Director of the Pediatric Case Management and Follow-up Program for the Tennessee Department of Health. She has been a Registered Nurse for 24 years with 13 years of Neonatal Intensive Care experience and has been with the State of TN Department of Health for 8 years. She has served as Director for Newborn Screening Follow-up for the past 6 years. Prior to this role she served as the Case Management Coordinator and prior to that she was a case manager for the program. She oversees all follow-up and case management activities for Newborn Screening, Newborn Hearing Screening, Newborn CCHD Screening, and the Childhood Lead Poisoning Prevention Program.
ASHA DISCLOSURE:
Financial -
Nonfinancial -
AAA DISCLOSURE:
Financial -
Nonfinancial -
Suprithi Pingle
(Co-Author), TDH, suprithi.pingle@emory.edu;
N/A
ASHA DISCLOSURE:
Financial -
Nonfinancial -
AAA DISCLOSURE:
Financial -
Nonfinancial -