The incorporation of genetic information into the early hearing detection and intervention (EHDI) process has the potential to dramatically improve the process by providing information regarding appropriate protocols for case management and differential diagnosis, prognosis for rehabilitation and by providing more complete information for families regarding etiology and recurrence risk. However, before genetic testing should be applied universally, it is important to understand when to introduce such testing and counseling into the process and these decisions should be based on scientific study and data. Relative to other events in the EHDl process, the time at which the family is approached regarding testing and the provision of information will influence parental interest in genetic testing, parental understanding of information provided, and the anxiety associated with the information. Further, before Cx26 genetic testing is applied universally, it is important to understand how the limitations of genetic testing at a single locus for a heterogeneous condition influences parental understanding, anxiety, and perceived personal control. Only through prospective, longitudinal research designs will data bearing on these important issues be available. The accuracy and completeness of information regarding prognosis relative to genetic disposition is linked to the amount of carefully controlled phenotype investigations. At present, a lack of large-scale studies of the hearing and related characteristics (phenotype) of infants and children with accurate genotypic information have denied the hearing health community with a complete picture of the infant with biallelic Cx26 mutations. This study employs a prospective, longitudinal design to compare the efficacy of introducing genetic counseling and testing at two stages in the EHDI process, one after failure on inpatient screening but before final diagnosis (pre-diagnosis) and the other following audiologic diagnosis of hearing loss (post-diagnosis). A large cohort of predominantly hearing parents will be followed for up to 6 months to fully evaluate the educational and psychological outcomes of genetic testing and counseling. A large cohort of infants and toddlers will be followed for up to three years to fully evaluate the audiologic phenotype of infants and data will be compared based on Cx26 genotype.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Research Project (R01)
Project #
1R01DC005663-01
Application #
6541211
Study Section
Special Emphasis Panel (ZDC1-SRB-S (02))
Program Officer
Donahue, Amy
Project Start
2002-09-23
Project End
2006-08-31
Budget Start
2002-09-23
Budget End
2003-08-31
Support Year
1
Fiscal Year
2002
Total Cost
$343,125
Indirect Cost
Name
University of California Los Angeles
Department
Genetics
Type
Schools of Medicine
DUNS #
119132785
City
Los Angeles
State
CA
Country
United States
Zip Code
90095
Palmer, Christina G S; Martinez, Ariadna; Fox, Michelle et al. (2009) 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. Am J Med Genet A 149A:1169-82
Palmer, Christina G S; Lueddeke, Jason T; Zhou, Jin (2009) Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child. Genet Med 11:248-55
Palmer, Christina G S; Martinez, Ariadna; Fox, Michelle et al. (2008) Ethnic differences in parental perceptions of genetic testing for deaf infants. J Genet Couns 17:129-38
Blase, Terri; Martinez, Ariadna; Grody, Wayne W et al. (2007) Sharing GJB2/GJB6 genetic test information with family members. J Genet Couns 16:313-24
Palmer, Christina G S; Martinez, Ariadna; Sininger, Yvonne et al. (2005) Prelingual siblings of children with GJB2 hearing loss: issues to consider. Arch Otolaryngol Head Neck Surg 131:1020-2
Schimmenti, Lisa A; Martinez, Ariadna; Fox, Michelle et al. (2004) Genetic testing as part of the early hearing detection and intervention (EHDI) process. Genet Med 6:521-5
Martinez, Ariadna; Linden, Joyce; Schimmenti, Lisa A et al. (2003) Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness. Genet Med 5:106-12