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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
Author
Organization
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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MLA
Sermijn, Erica 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.
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.
Chicago author-date
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.
Chicago author-date (all authors)
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.
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.
IEEE
[1]
E. Sermijn et al., “The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation : efficacy and safety,” FAMILIAL CANCER, vol. 15, no. 2, pp. 155–162, 2016.
@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},
  keywords     = {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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