title: The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety.
abstract: BACKGROUND
  Predictive genetic testing has high impact on cancer prevention for BRCA carriers and passing this information in BRCA families is important. Mostly, this is proband-mediated but this path is defective and denies relatives lifesaving information.
  
  
  OBJECTIVE
  To assess the efficacy/safety of an intervention, in which relatives are actively informed.
  
  
  METHODS
  Sequential prospective study in new BRCA families. The proband informed relatives about predictive testing (phase I). After 6 months, a letter was sent to adult relatives who had not been reached (phase II). Then a phone call was made to obtain a final notion of their wishes. All subjects received psychometric testing (State-Trait Anxiety Inventory, STAI), an interview and routine counselling.
  
  
  RESULTS
  Twenty families were included. Twenty-four of the relatives could not be reached, 59 were 'decliners', 47 participated by the proband and 42 by the letter. Predictive testing was performed in 98% of the participants of which 30 were mutation carriers. The intervention is psychologically safe: the 95% CI for the estimated mean difference in STAI DY1 between phase II/I subjects (mean difference -1.07, 95% CI -4.4 to 2.35, p = 0.53) shows that the mean STAI DY1 score (measured at first consult) for phase II is no more than 2.35 units higher than for phase I, which is not relevant.
  
  
  CONCLUSIONS
  A protocol directly informing relatives nearly doubles the number of relatives tested and is psychologically safe. This should lead to a change in counselling guidelines in families with a strong germline predisposition for cancer.
authors.affiliation: Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Laarbeeklaan 101, 1090, Brussels, Belgium. erica.sermijn@asz.be.
authors.forename: Erica
authors.identifier: http://orcid.org/0000-0002-7741-8347
authors.initials: E
authors.lastname: Sermijn
authors.affiliation: Research Unit of Department of Internal Medicine, University Hospital Ghent, De Pintelaan 185, 9000, Ghent, Belgium.
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Delesie
authors.affiliation: Department of Public Health, Biostatistics Unit, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.
authors.forename: Ellen
authors.initials: E
authors.lastname: Deschepper
authors.affiliation: Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Laarbeeklaan 101, 1090, Brussels, Belgium.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Pauwels
authors.affiliation: Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Laarbeeklaan 101, 1090, Brussels, Belgium.|Department of Medical Genetics, University Hospital Brussels, Laarbeeklaan 101, 1090, Brussels, Belgium.
authors.forename: Maryse
authors.initials: M
authors.lastname: Bonduelle
authors.affiliation: Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Laarbeeklaan 101, 1090, Brussels, Belgium.
authors.forename: Erik
authors.initials: E
authors.lastname: Teugels
authors.affiliation: Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Laarbeeklaan 101, 1090, Brussels, Belgium.
authors.forename: Jacques
authors.initials: J
authors.lastname: De Grève
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D005190:Family; D005260:Female; D005817:Genetic Counseling / Q000379:methods / Q000523:psychology / Q000706:statistics & numerical data; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000706:statistics & numerical data*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011446:Prospective Studies; D055815:Young Adult
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human
keywords: BRCA gene mutation; Efficacy; Predictive genetic counselling; Procedure; Safety