LETTER TO JMG Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss

Hearing loss is an economically and socially important cause of human morbidity. It is estimated that at least 20% of the population develop clinically significant hearing loss at some time during their lives. Hereditary hearing loss occurs in approximately 1/2000 newborns. During the past five years, dramatic advances have been made in the mapping of more than 60 loci for non-syndromic deafness. Interestingly, quite contrary to the assumption that genetic deafness was caused by a large number of equally rare genes, it has been shown that in many populations mutations at the connexin 26 (Cx26) locus can account for as much as 50-80% of recessive genetic deafness. The ability to diagnose specific forms of recessive deafness by molecular testing even in simplex families with only one affected child is rapidly becoming the standard of care for the management of such cases. However, the imminent availability of widespread testing in the deaf community has raised a number of ethical issues, some of which are unique to the genetics of deafness. For instance, some would consider prenatal diagnosis for hearing status unacceptable owing to the unique perspective on hearing loss among different groups. Differences in the way people view the field of genetics and genetic testing for hearing loss are quite likely related to cultural differences in attitudes about hearing loss or deafness. The medical community tends to view deafness as a disability and a condition to be cured. Hearing subjects tend to share this “pathological” perspective on deafness. While most subjects with hearing loss become well integrated into the hearing world, many deaf people regard deafness and manual communication as distinctive features that define the separate, closely knit culture of the Deaf community (denoted with a capital D). Sociologists, linguists, and anthropologists now recognise Deaf people as a special cultural and linguistic population. 6 Deaf and hard of hearing people have developed distinctive behaviour patterns, values, and norms based on their hearing loss and in response to societal attitudes towards them. Members of the Deaf community share a common identity, customs, experience, and, most importantly, language. The primary language of those in the Deaf community in the United States is American Sign Language (ASL). The Deaf community has traditionally viewed the field of genetics with distrust, owing in large part to the “medicalisation” of deafness and awareness of the eugenics movement of the past, when efforts were made to eradicate Deaf culture. Some Deaf subjects have expressed reluctance to participate in genetic counselling for fear that they will be told not to have children. Failing to share the pathological perspective of deafness, members of the Deaf community often feel threatened by what they perceive as efforts to “cure” them by, for example, genetic research or the use of cochlear implants. Indeed, some Deaf parents welcome the birth of Deaf children and seek genetic counselling to learn the chances of this occurrence. 11 It is necessary to understand and accommodate these views during genetic evaluation and counselling. An important step towards achieving this goal is to determine the attitudes of a large, diverse group of people with hearing loss towards advances in the genetics of hearing loss. Middleton et al found a predominantly negative view towards genetic advances in a small sample population comprising delegates at a conference on the “Deaf Nation” in the United Kingdom. More than half of the sample thought that genetic testing would do more harm than good. A much larger survey of 644 Deaf, 143 hard of hearing and deafened, and 527 hearing subjects with either a Deaf parent or a Deaf child ascertained from a variety of sources in the United Kingdom showed that self-identified culturally Deaf participants were significantly more likely than hearing or hard of hearing/ deafened participants to say that they would not be interested in prenatal testing for deafness. Of those hearing, hard of hearing/deafened, and Deaf participants who would consider prenatal diagnosis, 62-91% of participants in the various groups said they would use such information for preparing personally or preparing for the language needs of that child. Only a small minority of each group said that they would have prenatal diagnosis to terminate a Deaf fetus, and only 3/132 (2%) of Deaf respondents said that they would have prenatal diagnosis to terminate a hearing fetus in preference of a Deaf one. Another recent study of attitudes toward genetic testing in a group of 96 hearing parents of Deaf children in the United States showed that the vast majority had a positive attitude towards genetic testing for deafness including prenatal testing, but none would use this information to terminate a pregnancy. Another interesting finding of this study was that even in the parents who had genetic testing, there was little understanding of genetic mechanisms and recurrence risks, suggesting that either these parents did not receive genetic counselling before testing or that the counselling did not lead to a clear understanding of these concepts. The authors emphasise the importance of appropriate genetic counselling as part of the genetic testing process. Given these findings, the present study was designed to determine the attitudes towards the field of genetics and genetic testing for hearing loss among Deaf and hard of hearing persons in the United States with differing cultural perspectives.