The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety

• Published in: Familial cancer 2016-04, Vol.15 (2), p.155-162
• Main Authors: Sermijn, Erica, Delesie, Liesbeth, Deschepper, Ellen, Pauwels, Ingrid, Bonduelle, Maryse, Teugels, Erik, De Grève, Jacques
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Biomedical and Life Sciences; Biomedicine; BRCA1 Protein - genetics; BRCA2 Protein - genetics; Cancer Research; Epidemiology; Family; Female; Genetic Counseling - methods; Genetic Counseling - psychology; Genetic Counseling - statistics & numerical data; Genetic Predisposition to Disease; Genetic Testing - statistics & numerical data; Heterozygote; Human Genetics; Humans; Male; Middle Aged; Mutation; Original; Original Article; Prospective Studies; Young Adult
• ISSN: 1389-9600; 1573-7292
• DOI: 10.1007/s10689-015-9854-4

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. Design: 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.