title: Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?
abstract: Surveys of attitudes of individuals with deafness and their families towards genetic testing or prenatal diagnosis have mostly been carried out in the West. It is expected that the perceptions and attitudes would vary amongst persons of different cultures and economic background. There is little information on the prevailing attitudes for genetic testing and prenatal diagnosis for deafness in developing countries. Therefore, this study evaluates the motivations of Indian people with inherited hearing loss towards such testing. Twenty-eight families with history of congenital hearing loss (23 hearing parents with child/family member with deafness, 4 couples with both partners having deafness and 1 parent and child with deafness) participated in a semi-structured survey investigating their interest, attitudes, and intentions for using genetic and prenatal testing for deafness. Participants opinioned that proper management and care of individuals with deafness were handicapped by limited rehabilitation facilities with significant financial and social burden. Nineteen (68%) opted for genetic testing. Twenty-six (93%) expressed high interest in prenatal diagnosis, while 19 (73%) would consider termination of an affected fetus. Three hearing couples, in whom the causative mutations were identified, opted for prenatal diagnosis. On testing, all the three fetuses were affected and the hearing parents elected to terminate the pregnancies. This study provides an insight into the contrasting perceptions towards hearing disability in India and its influence on the desirability of genetic testing and prenatal diagnosis.
authors.affiliation: Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
authors.forename: Risha
authors.initials: R
authors.lastname: Nahar
authors.forename: Ratna D
authors.initials: RD
authors.lastname: Puri
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
authors.forename: Ishwar C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D000328:Adult; D003469:Culture; D003638:Deafness / Q000175:diagnosis* / Q000235:genetics; D003906:Developing Countries; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D009042:Motivation; D009154:Mutation; D010290:Parents / Q000523:psychology*; D010375:Pedigree; D010465:Perception; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011795:Surveys and Questionnaires; D055815:Young Adult