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 journalArticle

109 Citations (Scopus)

Abstract

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
Volume4
Issue number3
DOIs
StatePublished - Jan 1 2002

Fingerprint

Genetic Services
Hearing Loss
Guidelines
Newborn Infant
Hearing
United States Health Resources and Services Administration
Genetic Testing

Keywords

  • Congenital hearing loss
  • Genetic testing
  • Newborn screening

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Nance, W. E., Arnos, K. S., Carey, J. C., Cunningham, G. C., Falk, R. E., Finitzo, T., ... White, K. R. (2002). Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetics in Medicine, 4(3), 162-171. https://doi.org/10.1097/00125817-200205000-00011

Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. / Nance, Walter E.; Arnos, Kathleen S.; Carey, John C.; Cunningham, George C.; Falk, Rena Ellen; Finitzo, Terese; Honrubia, Dynio; Keats, Bronya J.; Kimberling, William J.; Lim, Gail; Morton, Cynthia C.; Pandya, Arti; Pelias, Mary Kay; Skordas, James; Smith, Richard; Watson, Michael S.; Boyle, Colleen; Kenneson, Aileen; Donahue, Amy; Lloyd-Puryear, Michele; Mann, Marie; Sheehan, Jay; Therrell, Bradford; White, Karl R.

In: Genetics in Medicine, Vol. 4, No. 3, 01.01.2002, p. 162-171.

Research output: Contribution to journalArticle

Nance, WE, Arnos, KS, Carey, JC, Cunningham, GC, Falk, RE, Finitzo, T, Honrubia, D, Keats, BJ, Kimberling, WJ, Lim, G, Morton, CC, Pandya, A, Pelias, MK, Skordas, J, Smith, R, Watson, MS, Boyle, C, Kenneson, A, Donahue, A, Lloyd-Puryear, M, Mann, M, Sheehan, J, Therrell, B & White, KR 2002, 'Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss', Genetics in Medicine, vol. 4, no. 3, pp. 162-171. https://doi.org/10.1097/00125817-200205000-00011
Nance, Walter E. ; Arnos, Kathleen S. ; Carey, John C. ; Cunningham, George C. ; Falk, Rena Ellen ; Finitzo, Terese ; Honrubia, Dynio ; Keats, Bronya J. ; Kimberling, William J. ; Lim, Gail ; Morton, Cynthia C. ; Pandya, Arti ; Pelias, Mary Kay ; Skordas, James ; Smith, Richard ; Watson, Michael S. ; Boyle, Colleen ; Kenneson, Aileen ; Donahue, Amy ; Lloyd-Puryear, Michele ; Mann, Marie ; Sheehan, Jay ; Therrell, Bradford ; White, Karl R. / Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. In: Genetics in Medicine. 2002 ; Vol. 4, No. 3. pp. 162-171.
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