title: Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy.
abstract: Presymptomatic genetic testing of an untreatable disease raises clinical, ethical, legal and psychosocial questions. Investigations in specific disorders are needed to help in understanding the motivation for and the impact of genetic testing in the lives of persons at risk for these diseases. Here, we performed a longitudinal study to investigate the psychological consequences of presymptomatic genetic testing on people at risk for transthyretin-related familial amyloidotic polyneuropathy (TTR-FAP). The aim of the present study was to provide possible guidelines for genetic counselling and psychosocial support. Impact of Event Scale Revised (IES-R), Hospital Anxiety and Depression Scale (HADS) and SF-36 questionnaires were administered to 18 asymptomatic subjects before, immediately after communication of the genetic test result and after 3, 6 and 26 months. Our findings showed evidence of anxiety, depression, avoidance of the disease, and psychological distress, especially for women, including those with a negative genetic test result ("survivor guilt"). A psychological support has to be provided before and continued at long term after presymptomatic genetic testing for TTR-FAP in people with positive result as well as in those with negative result.
authors.affiliation: Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.
authors.forename: Anita
authors.initials: A
authors.lastname: Graceffa
authors.forename: Massimo
authors.initials: M
authors.lastname: Russo
authors.forename: Gian Luca
authors.initials: GL
authors.lastname: Vita
authors.forename: Antonio
authors.initials: A
authors.lastname: Toscano
authors.forename: Roberto
authors.initials: R
authors.lastname: Dattola
authors.forename: Corrado
authors.initials: C
authors.lastname: Messina
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Vita
authors.forename: Anna
authors.initials: A
authors.lastname: Mazzeo
mesh_terms: D000203:Activities of Daily Living / Q000523:psychology; D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology*; D001008:Anxiety Disorders / Q000235:genetics / Q000523:psychology; D004252:DNA Mutational Analysis / Q000523:psychology / Q000592:standards; D003866:Depressive Disorder / Q000235:genetics / Q000523:psychology; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005817:Genetic Counseling / Q000523:psychology / Q000592:standards; D006167:Guilt; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D011228:Prealbumin / Q000235:genetics*; D011379:Prognosis; D011584:Psychology; D012727:Sex Characteristics; D017678:Sex Distribution; D011795:Surveys and Questionnaires
chemical_list: D011228:Prealbumin