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Genetics in pediatric SNHL 2

CE / CME

Integrating Genotype Into Counseling and Management Planning in Pediatric Sensorineural Hearing Loss: The Role of Genetic Counselors

Physician Assistants/Physician Associates: 0.50 AAPA Category 1 CME credit

Physicians: maximum of 0.50 AMA PRA Category 1 Credit

Nurse Practitioners/Nurses: 0.50 Nursing contact hour

Genetic Counselors: 0.50 CEUs or 0.50 Category 1 Contact Hour

Released: July 13, 2026

Expiration: July 12, 2027

Activity

Progress
1 2 3
Course Completed

References

  1. Shearer AE. Genetic testing for pediatric sensorineural hearing loss in the era of gene therapy. Curr Opin Otolaryngol Head Neck Surg. 2024;32:352-356.
  2. Smith RJH, Azaiez H, Odell AM. SLC26A4-related sensorineural hearing loss. In: Adam MP, Bick S, Mirzaa GM, et al, editors. GeneReviews [internet]. University of Washington, Seattle; 1993-2026.
  3. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-424.
  4. Hoskinson DC, Dubuc AM, Mason-Suares H. The current state of clinical interpretation of sequence variants. Curr Opin Genet Dev. 2017;42:33-39.
  5. Martschenko DO, Smith M. Genes do not operate in a vacuum, and neither should our research. Nat Genet. 2021;53:255-256.
  6. Li MM, Tayoun AA, DiStefano M, et al. Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022;24:1392-1406.
  7. Manrique M, Ramos Á, de Paula Vernetta C, et al. Guideline on cochlear implants. Acta Otorrinolaringol Esp (Engl Ed). 2019;70:47-54.
  8. American Academy of Audiology. Clinical practice guideline: cochlear implants. audiology.org/practice-guideline/clinical-practice-guideline-cochlear-implants/. Accessed June 1, 2026.
  9. Carlson RJ, Walsh T, Mandell JB, et al. Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. JAMA Otolaryngol Head Neck Surg. 2023;149:212-222.
  10. National Institute on Deafness and Other Communication Disorders. Pendred syndrome.
    nidcd.nih.gov/health/pendred-syndrome. Accessed June 1, 2026.
  11. Mazzola S, Schreiber A. Genetics evaluation outcomes of patients with pediatric hearing loss: 2008-2022 retrospective study. Am J Otolaryngol. 2024;45:104196.
  12. Davis D, Oakes L, Raol N, et al. Evaluating parental genetic knowledge of hearing loss with and without pre-test genetic counseling in a pediatric otolaryngology clinic. J Genet Couns. 2021;30:1379-1387.
  13. US Food and Drug Administration. FDA approves first-ever gene therapy treatment for genetic hearing loss under national priority voucher. fda.gov/news-events/press-announcements/fda-approves-first-ever-gene-therapy-treatment-genetic-hearing-loss-under-national-priority-voucher. Accessed June 1, 2026.
  14. Lunsotogene parvec-cwha [prescribing information]. Tarrytown, NY: Regeneron Pharmaceuticals, Inc.; 2026.
  15. Boston Children’s Hospital. Gene therapy for hearing loss. childrenshospital.org/conditions-treatments/gene-therapy-hearing-loss. Accessed June 1, 2026.
  16. Barnett CL, Malhotra P, VanHorn A, et al. Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio. J Community Genet. 2025;16:603-613.
  17. Azaiez H, Thorpe RK, Odell AM, et al. OTOF-related hearing loss. In: Adam MP, Bick S, Mirzaa GM, et al, editors. GeneReviews [internet]. University of Washington, Seattle; 1993-2026.
  18. Fan X, Gao Z, Zhong J, et al. International expert consensus on gene therapy for hereditary hearing loss: Based on clinical trials. Med. 2026;7:100886.
  19. US Food and Drug Administration. Understanding FDA terms: possible new therapies to prevent and treat diseases. fda.gov/consumers/consumer-updates/understanding-fda-terms-possible-new-therapies-prevent-and-treat-diseases. Accessed June 1, 2026.
  20. US Food and Drug Administration. Expanded access. fda.gov/news-events/public-health-focus/expanded-access. Accessed June 1, 2026.