A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants

Christina G S Palmer, Ariadna Martinez, Michelle Fox, Jin Zhou, Nina Shapiro, Yvonne Sininger, Wayne W. Grody, Lisa A. Schimmenti

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

There are limited data on the impact of incorporating genetic counseling and testing into the newborn hearing screening process. We report on results from a prospective, longitudinal study to determine the impact of genetic counseling and GJB2/GJB6 genetic testing on parental knowledge, attitudes, and beliefs about genetic testing. One hundred thirty culturally hearing parents of 93 deaf or hard-of-hearing children ages 0-3 years primarily identified through newborn hearing screening received pre- and post-test genetic counseling for GJB2 and GJB6. Parents completed questionnaires following pre-test counseling, and 1- and 6-month post-test result disclosure. Results indicate that following pre-test counseling all parents perceived benefits to genetic testing. While parents who received positive results continued to perceive benefits from testing, perceived benefit declined among parents who received inconclusive or negative results. Parents did not perceive genetic testing as harmful following pre-test counseling or receipt of test results. Parents who received positive test results performed better in understanding recurrence and causation of their child's deafness and indicated greater interest in prenatal genetic testing than those who received inconclusive or negative test results. Parents felt that pediatricians and audiologists should inform parents of genetic testing availability; however, there was no consensus on timing of this discussion. Thus culturally hearing parents do not perceive genetic testing of their deaf or hard-of-hearing infants/toddlers as harmful; they feel that primary care providers should discuss genetic testing with them; and positive genetic test results with genetic counseling give rise to better understanding and perceived benefit than negative or inconclusive results.

Original languageEnglish (US)
Pages (from-to)1169-1182
Number of pages14
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number6
DOIs
StatePublished - Jun 2009
Externally publishedYes

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Genetic Testing
Hearing
Longitudinal Studies
Parents
Prospective Studies
Genetic Counseling
Counseling
Newborn Infant
Disclosure
Deafness
Causality
Primary Health Care
Consensus
Recurrence

Keywords

  • Connexin 26
  • Cx26
  • Early hearing detection and intervention
  • EHDI
  • Hearing impairment
  • Hearing loss
  • Newborn hearing screening

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants. / Palmer, Christina G S; Martinez, Ariadna; Fox, Michelle; Zhou, Jin; Shapiro, Nina; Sininger, Yvonne; Grody, Wayne W.; Schimmenti, Lisa A.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 6, 06.2009, p. 1169-1182.

Research output: Contribution to journalArticle

Palmer, Christina G S ; Martinez, Ariadna ; Fox, Michelle ; Zhou, Jin ; Shapiro, Nina ; Sininger, Yvonne ; Grody, Wayne W. ; Schimmenti, Lisa A. / A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 6. pp. 1169-1182.
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