Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss

Walter E. Nance, Kathleen S. Arnos, John C. Carey, George C. Cunningham, Rena Ellen Falk, Terese Finitzo, Dynio Honrubia, Bronya J. Keats, William J. Kimberling, Gail Lim, Cynthia C. Morton, Arti Pandya, Mary Kay Pelias, James Skordas, Richard Smith, Michael S. Watson, Colleen Boyle, Aileen Kenneson, Amy Donahue, Michele Lloyd-PuryearMarie Mann, Jay Sheehan, Bradford Therrell, Karl R. White

    Research output: Contribution to journalArticlepeer-review

    132 Scopus citations


    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 congential 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.

    Original languageEnglish (US)
    Pages (from-to)162-171
    Number of pages10
    JournalGenetics in Medicine
    Issue number3
    StatePublished - 2002


    • Congenital hearing loss
    • Genetic testing
    • Newborn screening

    ASJC Scopus subject areas

    • Genetics(clinical)


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