title: Psychosocial consequences of predictive genetic testing for Lynch syndrome and associations to surveillance behaviour in a 7-year follow-up study.
abstract: We evaluated long-term psychosocial consequences of predictive genetic testing, and surveillance behaviour in Lynch syndrome (LS). We conducted a longitudinal study of 208 participants (62 LS mutation carriers and 146 non-carriers) who provided information on general anxiety (State-Trait Anxiety Inventory), fear of cancer and dying, satisfaction with life, risk and test perceptions, and surveillance behaviour in the baseline questionnaire before testing, and 1 month, 1 year and 7 years post-test. At 7 years, most of the psychosocial variables remained unchanged, regardless of mutation status. Carriers tended to underestimate their colorectal cancer risk but were more worried about their cancer risk than their counterparts. Non-carriers reported a higher degree of satisfaction with their testing decisions (P < 0.05), but had more doubts concerning test result validity than carriers (P < 0.05). All carriers attended a post-test colonoscopy surveillance, while 16% of non-carriers reported colonoscopy examinations. Those non-carriers with doubts about test validity were more likely (P = 0.019) to report post-test colonoscopy. Of the carriers, 17% had an interval longer than 3 years between their colonoscopies. Fear of dying soon, measured at 1-month post-test follow-up was the only psychosocial variable predicting non-compliance in recommended surveillance. No adverse psychosocial consequences were detected, and respondents were satisfied with their decision to testing 7 years post-test. Among the carriers, solely fear of dying soon predicted non-compliance in recommended surveillance. Some non-carriers were still worried about their risk and had doubts about the validity of their genetic testing results predicting post-test colonoscopy.
authors.affiliation: Department of Medical Genetics, Haartman Institute Biomedicum, University of Helsinki, PO Box 63, FIN-00014, Helsinki, Finland, katja.aktan-collan@helsinki.fi.
authors.forename: Katja
authors.initials: K
authors.lastname: Aktan-Collan
authors.forename: Helena
authors.initials: H
authors.lastname: Kääriäinen
authors.forename: Heikki
authors.initials: H
authors.lastname: Järvinen
authors.forename: Päivi
authors.initials: P
authors.lastname: Peltomäki
authors.forename: Kirsi
authors.initials: K
authors.lastname: Pylvänäinen
authors.forename: Jukka-Pekka
authors.initials: JP
authors.lastname: Mecklin
authors.forename: Ari
authors.initials: A
authors.lastname: Haukkala
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000328:Adult; D001007:Anxiety / Q000209:etiology / Q000523:psychology*; D002648:Child; D003113:Colonoscopy / Q000523:psychology* / Q000706:statistics & numerical data; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000150:complications / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology*; D005260:Female; D005387:Finland / Q000453:epidemiology; D005500:Follow-Up Studies; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010349:Patient Compliance; D011159:Population Surveillance; D011379:Prognosis; D011788:Quality of Life; D011795:Surveys and Questionnaires; D013997:Time Factors
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein