Outcomes of Genetic Testing for Hearing Impairment

Sensorineural hearing loss (SNHL) is a heterogeneous group of disorders that collectively represent the most common congenital deficit in humans. More than 100 genes have been implicated in SNHL. Our ability to identify the molecular etiologies of hearing loss is rapidly increasing, and coupled with the institution of universal newborn hearing screening programs, both diagnosis and molecular testing are being offered at an earlier age. While these technical advances are being incorporated into clinical management of infants and children with hearing loss little work has been initiated to understand the decision making processes and attitudes of parents who opt for or against genetic testing. Further work is also needed to understand the outcomes of genetic testing in families with hearing loss both to establish genotype-phenotype correlations to improve clinical management and to identify and address issues of concern to affected families. There is little data to guide this intervention and it is not yet clear how the results of the testing and counseling sessions impact the family, subsequent interventions, or the child's eventual outcome. This proposal takes a multidisciplinary approach to study a large cohort of children and their families ascertained with hearing loss on a molecular and clinical level and to evaluate outcomes, parental attitudes towards, and the psychosocial aspects of, genetic testing with the overall goal of improving clinical practice and providing parents with the information and tools they need to make informed decisions. We hypothesize that 1) by identifying the etiology of hearing loss, through genetic evaluation and molecular testing, genotype-phenotype correlations will be established that will lead to improved clinical management of patients and families with hearing loss; 2) assessment of parental understanding, attitudes, beliefs and concerns about genetic testing throughout the testing process (beginning with the time of referral by the audiologist or otolaryngologist and continuing through specific gene testing) will increase our understanding of the needs and concerns of parents of children with hearing loss thus promoting informed and collaborative decision making resulting in improved clinical management; and 3) assessment of parental understanding, beliefs, attitudes, and concerns about genetic testing will lead to the development of educational materials and decision aids to assist families, both hearing and deaf, with their hearing impaired children.