Part 20 – Genetic Testing & Counseling following Pediatric Hearing Loss Diagnosis
By the Oklahoma Audiology Taskforce & OU Genetics
The American Academy of Pediatrics (AAP) recommends referring for genetic medical evaluations to determine etiology and identify related conditions. However, according to Knowledge, Attitudes and Practices of Physicians study completed by the Oklahoma Newborn Hearing Screening Program (NHSP)/Early Hearing Detection and Intervention (EHDI) system partnered with the National Center for Hearing Assessment and Management (NCHAM) at Utah State University, Boys Town National Research Hospital, and the University of Oklahoma Health Sciences Center – Department of Communication Sciences and Disorders, only 8.9% of Oklahoma medical providers refer to a geneticist or genetic services.
As a follow-up to the last Oklahoma Pediatrician E-Newsletter on genetics, the Department of Pediatrics, Section of Genetics at the University of Oklahoma Health Sciences Center (OUHSC) has been asked to provide additional information regarding genetic testing and counselling.
ASK THE EXPERT:
OUHSC Licensed Genetic Counselor Team
For patients with congenital hearing loss, genetic testing can provide a wealth of knowledge. Not only can this information shed light on the etiology of the patient’s hearing loss, but also provide information about recurrence for the child’s parents- and even for the child’s future children. Based on family history data of American children, it is estimated that approximately 60% of educationally significant hearing loss is caused by a genetic factor1. The American College of Medical Genetics (ACMG) formally recognized the utility of this testing in their 2014 practice statement regarding genetic testing for children diagnosed with hearing loss2. ACMG recommends a formal evaluation for all newborns and infants with confirmed hearing loss- including a detailed family and birth history, along with a dysmorphology and physical exam. Families should be educated about the benefits and limitations of genetic testing for hearing loss through the process of genetic counseling.
Genetic counselors are specialized healthcare providers knowledgeable about the benefits, limitation, and appropriate use of genetic testing. A referral to a genetic counselor can provide information about genetic testing as well as the implications for the entire family based on results and how to proceed with positive or negative results. ACMG recommends pre-test genetic counseling be included in a comprehensive evaluation for hearing loss to determine the appropriate testing route, if desired. To find a genetic counselor in your area, visit www.nsgc.org/findageneticcounselor.
1Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993;46:486–491.
2 “American College of Medical Genetics and Genomics Guideline for the Clinical Evaluation and Etiologic Diagnosis of Hearing Loss.” Genetics in Medicine: Official Journal of the American College of Medical Genetics. U.S. National Library of Medicine, Apr. 2014.
To learn more about the Oklahoma Newborn Hearing Screening Program, gather resources for families, or receive a copy of the previous articles in this series, please send an email to NewBornScreen@health.ok.gov