Genetics and deafness: what do families want?

Editor—Deafness is the most frequent sensory impairment in humans, with significant social and psychological implications. At least half of all cases of permanent childhood hearing impairment have a genetic cause.1 However, there is almost universal agreement among clinical geneticists that only a small proportion of such families are referred to clinical genetics services.2 Increasing public awareness of genetics in general will lead to increased demand. Therefore, what do families want and how should genetic services be planned? Between September 1997 and October 1998, the parents of 522 hearing impaired children, aged between 4 and 13 years, in the Trent Health Region, were sent a questionnaire, which comprised 10 questions about their experience and opinion of clinical genetic services (see Appendix). The families had been identified in a previous geographically defined, population based ascertainment study of childhood hearing impairment.3 A further 104 families identified by that study were excluded from the questionnaire survey because (1) they had indicated an unwillingness to participate in further research, (2) they were lost to follow up, (3) the child had died, or (4) a local professional had indicated an approach would not be appropriate. The majority (n=416) of families were also sent an invitation to take part in a home visit, to investigate clinical aspects of non-syndromal hearing impairment. Those not invited to participate in a home visit (n=106) were the families of children who had a named syndrome (with hearing impairment as a recognised association) or who had a definite diagnosis of meningitis. Eighty two families were visited as part of this aspect of the study. (These data are to be published elsewhere.) Data from the previous study3 indicated that those not approached in the questionnaire survey were significantly less likely …