RESEARCH ARTICLE Do Parental Perceptions and Motivations Towards Genetic Testing and Prenatal Diagnosis for Deafness Vary in Different Cultures? Risha Nahar, Ratna D. Puri, Renu Saxena, and Ishwar C. Verma* Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India Manuscript Received: 18 April 2012; Manuscript Accepted: 6 September 2012 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 differ- ent cultures and economic background. There is little informa- tion 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) partici- pated 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 identi- fied, 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. Ó 2012 Wiley Periodicals, Inc. Key words: ethics; hearing loss; deafness; prenatal diagnosis; attitudes; India; termination of pregnancy; genetic testing INTRODUCTION With advances in molecular techniques, genetic testing, and pre- natal diagnosis have become an integral part of medical care. Views towards genetic testing for symptomatic patients are similar in all the cultures and do not raise ethical issues. However, views towards predictive genetic testing differ, depending upon the beliefs and perceptions of a particular society [Saxena et al., 2010]. Most differences are noticed in the approach towards prenatal genetic diagnosis and its acceptance. The commonest indication for prenatal testing in most countries is a high risk for chromosomal aneuploidies on maternal serum screen tests, followed by an off- spring, sibling or parent with single-gene disorder such as b thalassemia, Duchenne muscular dystrophy, spinal muscular atro- phy, etc. In developing countries, there is an increasing awareness and interest in prenatal testing because genetic disorders of all types, including hereditary deafness, lead to significant social and eco- nomic burden for the families due to poor support structures. Consequently, prenatal testing is accepted not only for severe genetic disorders but also for nonlife threatening conditions such as hearing loss or albinism. In the past decade, several surveys have been carried out in the developed countries, to analyze the attitudes and perceptions of affected individuals and the parents of probands with hearing loss towards genetic testing and prenatal diagnosis [Middleton et al., 1998; Brunger et al., 2000; Middleton et al., 2001; Dagan et al., 2002; Stern et al., 2002; Martinez et al., 2003; Taneja et al., 2004; Kaimal et al., 2007; Withrow et al., 2008]. These surveys demonstrated that most families were desirous of genetic testing, but very few opted for prenatal diagnosis. Those that did, were interested in using the information to help in the management, planning and emotional adjustment to the birth of a child with deafness, rather than to terminate an affected fetus. Additional supporting information may be found in the online version of this article. All authors state no conflict of interest. *Correspondence to: Ishwar C. Verma, MD, FRCP, FAAP, FAMS, Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi 110060, India E-mail: dr_icverma@yahoo.com Article first published online in Wiley Online Library (wileyonlinelibrary.com): 3 December 2012 DOI 10.1002/ajmg.a.35692 How to Cite this Article: Nahar R, Puri RD, Saxena R, Verma IC. 2013. Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures? Am J Med Genet Part A 161A:76–81. Ó 2012 Wiley Periodicals, Inc. 76