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Войти в исследования Familial cancer · 2016
The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety.
СтатьяНазвание и аннотация: Перевод в очереди
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Sermijn Erica, Delesie Liesbeth, Deschepper Ellen, Pauwels Ingrid, Bonduelle Maryse, Teugels Erik, De Grève Jacques
Аннотация
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.
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.