Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) |
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| Authors: | Marilyn M Li Ahmad Abou Tayoun Marina DiStefano Arti Pandya Heidi L Rehm Nathaniel H Robin Amanda M Schaefer Christine Yoshinaga-Itano |
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| Institution: | 1. Department of Pathology and Laboratory Medicine, Department of Pediatrics, Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA;2. Al Jalila Genomics Center, Al Jalila Children’s Specialty Hospital, Mohammed Bin Rashid University, Dubai, United Arab Emirates;3. Precision Health Program, Geisinger, Danville, PA;4. Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, NC;5. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA;6. Departments of Genetics and Pediatrics, University of Alabama at Birmingham, Birmingham, AL;7. Department of Otolaryngology—Head & Neck Surgery, Molecular Otolaryngology and Renal Research Laboratories, University of Iowa, Iowa City, IA;8. Institute of Cognitive Science, University of Colorado, Boulder, CO;9. American College of Medical Genetics and Genomics, Bethesda, MD;1. Memorial Sloan Kettering Cancer Center, New York, NY;2. Department of Pediatrics, Weill Cornell Medical College, New York, NY;3. Department of Population Health Sciences, Weill Cornell Medical College, New York, NY;4. Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA;1. Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia;2. Australian Genomics Health Alliance, Melbourne, Victoria, Australia;3. Murdoch Children’s Research Institute, Melbourne, Victoria, Australia;4. Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia;5. Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia;6. Monash Genetics, Monash Health, Melbourne, Victoria, Australia;7. Department of Pediatrics, Monash University, Melbourne, Victoria, Australia;8. Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia;1. Morgan & Mendel Genomics, Inc, Bronx, NY;2. Albert Einstein College of Medicine, Bronx, NY;3. Fred Hutchinson Cancer Center, Seattle, WA;4. Mayo Clinic, Scottsdale, AZ;5. The University of Melbourne, Melbourne, Victoria, Australia;6. Ontario Institute of Cancer Research, Toronto, Ontario, Canada;7. Montefiore Medical Center, Bronx, NY;1. Center for Virology, Medical University of Vienna, Vienna, Austria;2. Department of Medicine IV, Clinic Favoriten, Vienna, Austria;3. Faculty of Medicine, Sigmund Freud University, Vienna, Austria;1. Department of Medical Social Sciences, Feinberg School of Medicine, Northwestern University, Chicago, IL;2. The Comparative Health Outcomes, Policy & Economics (CHOICE) Institute and Department of Pharmacy, School of Pharmacy, University of Washington, Seattle, WA;3. Department of Health Systems and Population Health, School of Public Health, University of Washington, Seattle, WA;1. Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada;2. Genomics Health Services and Policy Research Program, Li Ka Shing Knowledge Institute, St. Michael''s Hospital, Unity Health Toronto, Toronto, Ontario, Canada;3. Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada;4. Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada;5. Department of Laboratory Medicine and Pathobiology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada;6. Li Ka Shing Knowledge Institute, St. Michael''s Hospital, Unity Health Toronto, Toronto, Ontario, Canada;7. Department of Surgery, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada;8. Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia;9. Ontario Institute for Cancer Research, Toronto, Ontario, Canada |
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| Abstract: | Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard-of-hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health care services are provided in a linguistically and culturally sensitive manner. This clinical practice resource offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical and genetic evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling. |
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| Keywords: | Genetic counseling Genetic testing Genetics evaluation Hard-of-hearing Hearing loss |
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