title: Presymptomatic genetic testing in children for neurofibromatosis 2.
abstract: Genetic testing in children, when there is a question of whether or not there is a clear medical benefit that will accrue to the child, is a controversial topic within the health care community. A convenience sample of 10 parents from nine families who had made the decision whether or not to test their children for the neurofibromatosis 2 gene mutation was asked in interviews to describe why they made their choice about presymptomatic testing for this late-onset disease. Findings from a narrative analysis revealed how the nine parents who tested or intended to test their young children saw the decision as a pathway to knowledge that would help the family unit. All parents interviewed noted that their decision was informed by their health team and was not difficult to make. Implications of these findings for bioethical analysis are presented.
authors.affiliation: MGH Institute of Health Professions at Massachusetts General Hospital, Boston, MA, USA. jtwomey2@cox.net
authors.forename: John G
authors.initials: JG
authors.lastname: Twomey
authors.forename: Catherine
authors.initials: C
authors.lastname: Bove
authors.forename: Deborah
authors.initials: D
authors.lastname: Cassidy
mesh_terms: D000293:Adolescent; D000328:Adult; D001294:Attitude to Health; D002648:Child; D002675:Child, Preschool; D003220:Conflict, Psychological; D003657:Decision Making / Q000941:ethics; D028663:Ethical Theory; D005260:Female; D005817:Genetic Counseling / Q000941:ethics / Q000523:psychology; D005820:Genetic Testing / Q000941:ethics / Q000523:psychology*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D033262:Narration; D016518:Neurofibromatosis 2 / Q000175:diagnosis* / Q000235:genetics; D024802:Nurse's Role; D015404:Nursing Methodology Research; D010290:Parents / Q000193:education / Q000523:psychology*; D028662:Principle-Based Ethics; D036301:Qualitative Research; D011795:Surveys and Questionnaires; D035501:Uncertainty