Genetics, Disability, and Deafness

Deaf and Hearing Adults’ Attitudes toward Genetic Testing for Deafness

DEAF AND HEARING ADULTS’ ATTITUDES TOWARD GENETIC TESTING FOR DEAFNESS Anna Middleton Genetic factors play a major role in the development of both congenital and late-onset deafness (Cohen and Gorlin 1995). More than 120 different genetic loci involved with deafness have been identified over the past ten years (Van Camp and Smith 2004), and one particular gene, GJB2 or connexin 26, is thought to play a part in the most common form of genetic deafness—nonsyndromal recessive deafness. This is deafness in isolation (not part of a syndrome), and the person who is deaf usually has two parents who are both hearing but carriers of an altered gene, such as connexin 26. Testing for alterations in such a gene can be done via a blood sample . A diagnostic genetic test can inform a deaf person if his or her deafness is likely to be due to known genetic factors. A carrier genetic test can inform a hearing person if he or she has a deafness-causing gene. If both partners are hearing but are carriers for the same altered gene, they have a one in four chance of having deaf children. A prenatal genetic test is a test in pregnancy that can inform a pregnant couple whether their fetus has the gene alterations that could cause it to be deaf 127 (but would not indicate to what level). There are many genetics laboratories that now offer genetic testing for changes in various deafness genes, particularly connexin 26. This chapter considers research that ascertains how deaf people and their families feel about this testing. DEAFNESS—MEDICAL PROBLEM OR CULTURAL DIFFERENCE? Deafness can be viewed from different perspectives. People who are culturally Deaf (written with an uppercase “D”) may not predominantly perceive their deafness as a problem that needs to be “treated” with a hearing aid or cochlear implant. It is the medical model that would consider deafness in this way. The cultural or sociological model views deafness as a condition to be preserved and celebrated, offering a strong identity, rich language, and a distinct cultural community (Padden 1980). Many Deaf people who embrace this perspective do not want to be treated for their deafness and reject medical services that may offer this. For them personally, their deafness is not a disability; it is societal attitudes that are disabling. PRENATAL GENETIC TESTING FOR DEAFNESS Many clinical and research professionals involved with deaf families believe that the incorporation of genetic testing for deafness should be part of routine practice within clinical genetics services (Reardon 1998). If carrier and diagnostic genetic testing become more widely available, then it is almost implicit that prenatal genetic testing could also be on offer. For example, if a deaf child has a diagnostic genetic test that confirms his or her deafness is due to altered connexin 26 genes, and the parents are confirmed as carriers for this genetic alteration, then they know that they have a one in four chance of having more deaf children. Parents may wish to have a prenatal genetic test during a subsequent pregnancy, and if the fetus is found to have two altered connexin 26 genes (and thus is likely to be deaf), they may choose to end the pregnancy. For parents who have had a particularly difficult time with their deaf child(ren) (e.g., in obtaining education or support in teaching their child to communicate ), this may well be an option they choose for future pregnancies (Middleton 2004). For culturally Deaf people and also many parents of deaf children, and also deaf, hard of hearing, and deafened adults, 128 Anna Middleton this eventuality could be seen very negatively. For them, deafness may not be seen as a condition “serious” enough to warrant an abortion. An additional dynamic is that some Deaf parents prefer to have deaf children and do not want the numbers of deaf children born to be reduced, threatening the future of their culture (Middleton et al. 1998). Hearing people with no knowledge of Deaf culture may find this perspective difficult to understand. The following paper details a large research project that documented attitudes and beliefs about genetics and prenatal genetic testing for deafness. The hypothesis was that deaf and hearing people would have different attitudes toward such testing. The terminology includes using “deaf” to refer to all individuals affected by hearing loss, including the culturally Deaf, and the term “Deaf” to refer to culturally Deaf...