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

Content Provider	Springer Nature Link
Author	Sermijn, Erica Delesie, Liesbeth Deschepper, Ellen Pauwels, Ingrid Bonduelle, Maryse Teugels, Erik Grève, Jacques
Copyright Year	2016
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.
Starting Page	155
Ending Page	162
Page Count	8
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	15
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2016-01-09
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Predictive genetic counselling BRCA gene mutation Procedure Efficacy Safety Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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