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J Med Genet 39:449-453 doi:10.1136/jmg.39.6.449
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Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss

  1. S J Stern1,*,
  2. K S Arnos2,
  3. L Murrelle1,
  4. K Oelrich Welch2,
  5. W E Nance1,
  6. A Pandya1
  1. 1Department of Human Genetics, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA 23298, USA
  2. 2Department of Biology, Gallaudet University, Washington DC, USA
  1. Correspondence to:
 Dr A Pandya, Department of Human Genetics, Medical College of Virginia, PO Box 980033, Richmond, VA 23298, USA;
 apandya{at}hsc.vcu.edu

    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.1 Hereditary hearing loss occurs in approximately 1/2000 newborns.2 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.3 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).4 Sociologists, linguists, and anthropologists now recognise Deaf people as …