title: Development and validation of a brief screening instrument for psychosocial risk associated with genetic testing: a pan-Canadian cohort study.
abstract: OBJECTIVE
  To develop a brief, reliable and valid instrument to screen psychosocial risk among those who are undergoing genetic testing for Adult-Onset Hereditary Disease (AOHD).
  
  
  METHODS
  A prospective two-phase cohort study.
  
  
  METHODS
  5 genetic testing centres for AOHD, such as cancer, Huntington's disease or haemochromatosis, in ambulatory clinics of tertiary hospitals across Canada.
  
  
  METHODS
  141 individuals undergoing genetic testing were approached and consented to the instrument development phase of the study (Phase I). The Genetic Psychosocial Risk Instrument (GPRI) developed in Phase I was tested in Phase II for item refinement and validation. A separate cohort of 722 individuals consented to the study, 712 completed the baseline package and 463 completed all follow-up assessments. Most participants were female, at the mid-life stage. Individuals in advanced stages of the illness or with cognitive impairment or a language barrier were excluded.
  
  
  METHODS
  Phase I: GPRI items were generated from (1) a review of the literature, (2) input from genetic counsellors and (3) phase I participants. Phase II: further item refinement and validation were conducted with a second cohort of participants who completed the GPRI at baseline and were followed for psychological distress 1-month postgenetic testing results.
  
  
  METHODS
  GPRI, Hamilton Depression Rating Scale (HAM-D), Hamilton Anxiety Rating Scale (HAM-A), Brief Symptom Inventory (BSI) and Impact of Event Scale (IES).
  
  
  RESULTS
  The final 20-item GPRI had a high reliability-Cronbach's α at 0.81. The construct validity was supported by high correlations between GPRI and BSI and IES. The predictive value was demonstrated by a receiver operating characteristic curve of 0.78 plotting GPRI against follow-up assessments using HAM-D and HAM-A.
  
  
  CONCLUSIONS
  With a cut-off score of 50, GPRI identified 84% of participants who displayed distress postgenetic testing results, supporting its potential usefulness in a clinical setting.
authors.affiliation: University Health Network, Toronto, Ontario, Canada.
authors.forename: Mary Jane
authors.initials: MJ
authors.lastname: Esplen
authors.forename: Mario
authors.initials: M
authors.lastname: Cappelli
authors.forename: Jiahui
authors.initials: J
authors.lastname: Wong
authors.forename: Joan L
authors.initials: JL
authors.lastname: Bottorff
authors.forename: Jon
authors.initials: J
authors.lastname: Hunter
authors.forename: June
authors.initials: J
authors.lastname: Carroll
authors.forename: Michel
authors.initials: M
authors.lastname: Dorval
authors.forename: Brenda
authors.initials: B
authors.lastname: Wilson
authors.forename: Judith
authors.initials: J
authors.lastname: Allanson
authors.forename: Kara
authors.initials: K
authors.lastname: Semotiuk
authors.forename: Melyssa
authors.initials: M
authors.lastname: Aronson
authors.forename: Louise
authors.initials: L
authors.lastname: Bordeleau
authors.forename: Nicole
authors.initials: N
authors.lastname: Charlemagne
authors.forename: Wendy
authors.initials: W
authors.lastname: Meschino