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. 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.Electronic supplementary materialThe online version of this article (doi:10.1007/s10689-015-9854-4) contains supplementary material, which is available to authorized users.

When to break the news and whose responsibility is it? A cross-sectional qualitative study of health professionals’ views regarding disclosure of BRCA genetic cancer risk

“…Other research has shown benefits from direct contact with at-risk relatives 30. Studies involving a range of illnesses (eg, BRCA1/2 , Lynch, Cowden syndrome) have shown that when GHP-mediated contact, uptake of testing was greater among at-risk relatives compared with when contact was patient-mediated 15 31. A Western Australian study adopted a cascade screening process derived from an Australasian model of care for familial hypercholesterolaemia in accordance to local and national guidelines.…”

A Relational Approach to Genetic Counseling for Hereditary Breast and Ovarian Cancer

“…Reflecting the acceptance of more direct approaches in practice, the authors of an international review found there was a clear focus on uninformed relatives and an endorsement of proactive approaches to encourage dissemination among family members in practice guidelines and position papers (Forrest et al 2007). Despite two studies establishing that writing directly to at-risk family members nearly doubles the amount of relatives presenting to the genetics service to clarify their risk (Sermijn et al 2016;Suthers et al 2006), outside of research settings, the direct contact of at-risk relatives is not currently feasible in genetic counseling practice.…”

Female family members lack understanding of indeterminate negative BRCA1/2 test results shared by probands

“…Our finding of limited family communication about indeterminate negative BRCA test results is similar to findings in studies of BRCA‐positive families. Indeed, even when genetic counselors undertake interventions to help counselees notify family members, a large portion of potentially BRCA‐positive family members remain uninformed (Mendes, Paneque, Sousa, Clarke, & Sequeiros, ; Sermijn et al, ; Suthers, Armstrong, McCormack, & Trott, ).…”