title: Predictive genetic testing in diabetes: a case study of multiple perspectives.
abstract: Genetic testing is now possible in maturity onset diabetes of the young (MODY), an unusual genetic subtype of diabetes. To date, there has been no research into the implications of genetic testing for MODY families. The case study of the first known instance of predictive genetic testing for diabetes described in this article focuses on the perspectives of the family and the health care professionals involved in the decision-making process. Open-ended interviews were conducted before and after the predictive test. Content analysis highlighted four key areas: autobiographical experiences, motivations for testing, competing priorities in genetic counseling, and differing attitudes to predictive testing for children. Reactions to the predictive test result are presented. The implications of these findings for the provision of predictive genetic testing in diabetes are considered.
authors.affiliation: Department of Diabetes and Vascular Medicine, School of Postgraduate Medicine and Health Sciences, University of Exeter, Devon, United Kingdom. m.h.shepherd@exeter.ac.uk
authors.forename: M
authors.initials: M
authors.lastname: Shepherd
authors.forename: A T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: A C
authors.initials: AC
authors.lastname: Sparkes
mesh_terms: D000328:Adult; D017668:Age of Onset; D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D011237:Predictive Value of Tests