title: The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing.
abstract: BACKGROUND
  To fully assess predictive genetic testing programs, it is important to assess outcomes over periods of time longer than the 1-year follow-up reported in the literature.
  
  
  METHODS
  We conducted a 3-year study of individuals who received predictive genetic test results for previously identified familial mutations in Australian Familial Cancer Clinics. Questionnaires were sent before attendance at the familial cancer clinic and 2 weeks, 4 months, 1 year, and 3 years after receiving test results. Psychological measures were included each time, and preventive behaviors were assessed at baseline and 1 and 3 years. Psychological measures were adjusted for age, gender, and baseline score.
  
  
  RESULTS
  The study included 19 carriers and 54 non-carriers. We previously reported an increase in mean cancer-specific distress in carriers at 2 weeks with a return to baseline levels by 12 months. This level was maintained until 3 years. Non-carriers showed sustained decreases after testing with a significantly lower level at 3 years compared with baseline (P < 0.001). These scores tended to be lower than those for carriers at 3 years (P = 0.09). Mean depression and anxiety scores did not differ between carriers and non-carriers and, at 3 years, were similar to baseline. All carriers and 7% of non-carriers had had a colonoscopy by 3 years, and 69% of 13 female carriers had undergone gynecological screening in the previous 2 years. Prophylactic surgery was rare.
  
  
  CONCLUSIONS
  This report of long-term data indicates appropriate screening and improved psychological measures for non-carriers with no evidence of undue psychological distress in carriers of hereditary nonpolyposis colorectal cancer mutations.
authors.affiliation: Public Health Genetics, Murdoch Childrens Research Institute, Victoria, Australia. veronica.collins@mcri.edu.au
authors.forename: Veronica R
authors.initials: VR
authors.lastname: Collins
authors.forename: Bettina
authors.initials: B
authors.lastname: Meiser
authors.forename: Obioha C
authors.initials: OC
authors.lastname: Ukoumunne
authors.forename: Clara
authors.initials: C
authors.lastname: Gaff
authors.forename: D James
authors.initials: DJ
authors.lastname: St John
authors.forename: Jane L
authors.initials: JL
authors.lastname: Halliday
mesh_terms: D000328:Adult; D001007:Anxiety / Q000209:etiology / Q000523:psychology; D001315:Australia; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000523:psychology; D003863:Depression / Q000209:etiology / Q000523:psychology; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000523:psychology* / Q000706:statistics & numerical data; D015438:Health Behavior; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D011795:Surveys and Questionnaires