Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss
| Autor: | Cynthia C. Morton, Rena E. Falk, Amy M. Donahue, Mary Kay Pelias, Arti Pandya, Richard J.H. Smith, Michael S. Watson, Colleen Boyle, Jay Sheehan, George C. Cunningham, Dynio Honrubia, James Skordas, Michele A. Lloyd-Puryear, Marie Mann, Aileen Kenneson, Bronya J.B. Keats, Terese Finitzo, Karl R. White, Gail Lim, Walter E. Nance, Bradford L. Therrell, Kathleen S. Arnos, William J. Kimberling, John C. Carey |
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| Rok vydání: | 2002 |
| Předmět: |
medicine.medical_specialty
Hearing loss Advisory Committees Congenital hearing loss genetic testing Multidisciplinary approach otorhinolaryngologic diseases medicine Humans Hearing Loss Genetics (clinical) Genetic testing Genetics Newborn screening medicine.diagnostic_test newborn screening Genetic Services business.industry Maternal and child health Hearing Tests Guideline Medical genetics ACMG statement medicine.symptom business congenital hearing loss |
| Zdroj: | Genetics in Medicine |
| ISSN: | 1098-3600 |
| Popis: | The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congenital hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed. |
| Databáze: | OpenAIRE |
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