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

(2016) FAMILIAL CANCER. 15(2). p.155-162
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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.
Keywords
HEREDITARY BREAST-CANCER, OVARIAN-CANCER, HIGH-RISK, CARRIERS, WOMEN, MASTECTOMY, DIAGNOSIS, RELATIVES, MEMBERS, Predictive genetic counselling, BRCA gene mutation, Procedure, Efficacy, Safety

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Chicago
Sermijn, Erica, Liesbeth Delesie, Ellen Deschepper, Ingrid Pauwels, Maryse Bonduelle, Erik Teugels, and Jacques De Greve. 2016. “The Impact of an Interventional Counselling Procedure in Families with a BRCA1/2 Gene Mutation : Efficacy and Safety.” Familial Cancer 15 (2): 155–162.
APA
Sermijn, E., Delesie, L., Deschepper, E., Pauwels, I., Bonduelle, M., Teugels, E., & De Greve, J. (2016). The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation : efficacy and safety. FAMILIAL CANCER, 15(2), 155–162.
Vancouver
1.
Sermijn E, Delesie L, Deschepper E, Pauwels I, Bonduelle M, Teugels E, et al. The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation : efficacy and safety. FAMILIAL CANCER. 2016;15(2):155–62.
MLA
Sermijn, Erica, Liesbeth Delesie, Ellen Deschepper, et al. “The Impact of an Interventional Counselling Procedure in Families with a BRCA1/2 Gene Mutation : Efficacy and Safety.” FAMILIAL CANCER 15.2 (2016): 155–162. Print.
@article{8511623,
  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.},
  author       = {Sermijn, Erica and Delesie, Liesbeth and Deschepper, Ellen and Pauwels, Ingrid and Bonduelle, Maryse and Teugels, Erik and De Greve, Jacques},
  issn         = {1389-9600},
  journal      = {FAMILIAL CANCER},
  keyword      = {HEREDITARY BREAST-CANCER,OVARIAN-CANCER,HIGH-RISK,CARRIERS,WOMEN,MASTECTOMY,DIAGNOSIS,RELATIVES,MEMBERS,Predictive genetic counselling,BRCA gene mutation,Procedure,Efficacy,Safety},
  language     = {eng},
  number       = {2},
  pages        = {155--162},
  title        = {The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation : efficacy and safety},
  url          = {http://dx.doi.org/10.1007/s10689-015-9854-4},
  volume       = {15},
  year         = {2016},
}

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