Genetic testing for hearing loss: Different motivations for the same outcome

Abstract

The recent discoveries of genes involved in deafness open new options for families and individuals with hearing loss. Our aim was to learn if parents of children with hearing loss will benefit from these new possibilities. A total of 139 parents answered questionnaires aimed at evaluating their intentions as well as their reasons to opt for or against genetic testing and prenatal diagnosis for hearing loss. A very high interest (87%) in genetic testing was found among Israeli Jewish parents of deaf and hard-of-hearing children. Although the Jewish population in Israel is very diverse in its religious beliefs, this high interest was similar across all religious sectors (secular, traditional, orthodox, and ultraorthodox); however, some of the reasons for undertaking such a test were very different between them. Reasons related to family planning and prenatal diagnosis were significantly less important to parents from the ultraorthodox sector, but the possibility to utilize genetic testing for matchmaking the children with hearing loss and their hearing siblings was an important factor in motivating them to undertake the test. Parents from all religious sectors wished testing would shed light on the cause of the hearing loss. We conclude that genetic testing would be welcomed by a wide range of communities, including those that usually do not apply for genetic counseling and testing, if it is offered in accordance with their cultural norms and beliefs.

Assessing parental attitudes toward genetic testing for childhood hearing loss: Before and after genetic consultation

“…While outcome data continue to accrue, surveys have shown that parents are highly motivated to undergo newborn genetic testing for hearing loss [Brunger et al, 2000;Dagan et al, 2002;Martinez et al, 2003;Ryan et al, 2003]. However, some surveys have also revealed significant parental misconceptions about genetic testing and inadequate availability of genetic services [Dagan et al, 2002;Parker et al, 2000].…”

“…However, some surveys have also revealed significant parental misconceptions about genetic testing and inadequate availability of genetic services [Dagan et al, 2002;Parker et al, 2000]. Moreover, studies involving deaf adults have found predominantly negative attitudes toward genetics and genetic testing [Arnos, 1990;Middleton et al, 1998;Stern et al, 2002].…”

The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry

“…This required relying solely on prediction algorithms such as PolyPhen-2, rather than functional tests to infer mutagenicity for the detected variants, thus highlighting the need to complete genetic investigations well ahead of the actual pregnancy. It should be reiterated that preconception planning might be particularly important in similar cases because genetic testing for SNHL has raised some unique ethical issues stemming from cultural differences in attitudes toward hearing loss (Dagan et al, 2002) and the fact that treatments such as cochlear implantation are now commonly practiced. Accordingly, genetic counseling should be provided in an appropriate setting after the pathogenicity of the identified mutation is well established and when the parents can fully comprehend and weigh the risks, benefits, and limitations of genetic testing.…”

Parental Perspective of the Benefits of Genetic Testing in Children with Congenital Deafness

“…What is known is that potential benefits include information about the genetic cause and recurrent risk of deafness, and an understanding of the etiology of hearing loss in the family [21]. A willingness-to-pay approach was used to assess the value of benefits of genetic testing for prelingual deafness.…”