Skip to main content
Top
Published in: Journal of Genetic Counseling 3/2016

Open Access 01-06-2016 | Original Research

High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling

Authors: Aisha S. Sie, Liesbeth Spruijt, Wendy A. G. van Zelst-Stams, Arjen R. Mensenkamp, Marjolijn J. L. Ligtenberg, Han G. Brunner, Judith B. Prins, Nicoline Hoogerbrugge

Published in: Journal of Genetic Counseling | Issue 3/2016

Login to get access

Abstract

According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior to BRCA-mutation testing (DNA-intake). We evaluated a novel format by prospective study: replacing the intake consultation with telephone, written and digital information sent home. Face-to-face counseling then followed BRCA-mutation testing (DNA-direct). One year after BRCA-result disclosure, 108 participants returned long-term follow-up questionnaires, of whom 59 (55 %) had previously chosen DNA-direct (intervention) versus DNA-intake (standard practice i.e., control: 45 %). Questionnaires assessed satisfaction and psychological distress. All participants were satisfied and 85 % of DNA-direct participants would choose this procedure again; 10 % would prefer DNA-intake and 5 % were undecided. In repeated measurements ANOVA, general distress (GHQ-12, p = 0.01) and BC-specific distress (IES-bc, p = 0.03) were lower in DNA-direct than DNA-intake at all time measurements. Heredity-specific distress (IES-her) did not differ significantly between groups. Multivariate regression analyses showed that choice of procedure did not significantly contribute to either general or heredity-specific distress. BC-specific distress (after BC diagnosis) did contribute to both general and heredity-specific distress. This suggests that higher distress scores reflected BC experience, rather than the type of genetic diagnostic procedure. In conclusion, the large majority of BC patients that used DNA-direct reported high satisfaction without increased distress both in the short term, and 1 year after conclusion of genetic testing.
Literature
go back to reference Albada, A., Ausems, M. G., Otten, R., Bensing, J. M., & van Dulmen, S. (2011). Use and evaluation of an individually tailored website for counselees prior to breast cancer genetic counseling. Journal of Cancer Education, 26(4), 670–681. doi:10.1007/s13187-011-0227-x.CrossRefPubMed Albada, A., Ausems, M. G., Otten, R., Bensing, J. M., & van Dulmen, S. (2011). Use and evaluation of an individually tailored website for counselees prior to breast cancer genetic counseling. Journal of Cancer Education, 26(4), 670–681. doi:10.​1007/​s13187-011-0227-x.CrossRefPubMed
go back to reference Antoniou, A., Pharoah, P. D., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., & Easton, D. F. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. American Journal of Human Genetics, 72(5), 1117–1130.CrossRefPubMedPubMedCentral Antoniou, A., Pharoah, P. D., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., & Easton, D. F. (2003). Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. American Journal of Human Genetics, 72(5), 1117–1130.CrossRefPubMedPubMedCentral
go back to reference Balmana, J., Diez, O., Rubio, I. T., Cardoso, F., & Esmo Guidelines Working Group. (2011). BRCA in breast cancer: ESMO clinical practice guidelines. Annals of Oncology, 22(Suppl 6), vi31–34. doi:10.1093/annonc/mdr373.PubMed Balmana, J., Diez, O., Rubio, I. T., Cardoso, F., & Esmo Guidelines Working Group. (2011). BRCA in breast cancer: ESMO clinical practice guidelines. Annals of Oncology, 22(Suppl 6), vi31–34. doi:10.​1093/​annonc/​mdr373.PubMed
go back to reference Berliner, J. L., Fay, A. M., Cummings, S. A., Burnett, B., & Tillmanns, T. (2013). NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. Journal of Genetic Counseling, 22(2), 155–163. doi:10.1007/s10897-012-9547-1.CrossRefPubMed Berliner, J. L., Fay, A. M., Cummings, S. A., Burnett, B., & Tillmanns, T. (2013). NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. Journal of Genetic Counseling, 22(2), 155–163. doi:10.​1007/​s10897-012-9547-1.CrossRefPubMed
go back to reference Bottomley, A., & Aaronson, N. K. (2007). International perspective on health-related quality-of-life research in cancer clinical trials: the European organisation for research and treatment of cancer experience. Journal of Clinical Oncology, 25(32), 5082–5086.CrossRefPubMed Bottomley, A., & Aaronson, N. K. (2007). International perspective on health-related quality-of-life research in cancer clinical trials: the European organisation for research and treatment of cancer experience. Journal of Clinical Oncology, 25(32), 5082–5086.CrossRefPubMed
go back to reference Braithwaite, D., Emery, J., Walter, F., Prevost, A. T., & Sutton, S. (2006). Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis. Familial Cancer, 5(1), 61–75.CrossRefPubMed Braithwaite, D., Emery, J., Walter, F., Prevost, A. T., & Sutton, S. (2006). Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis. Familial Cancer, 5(1), 61–75.CrossRefPubMed
go back to reference Butrick, M., Kelly, S., Peshkin, B. N., Luta, G., Nusbaum, R., Hooker, G. W., & Schwartz, M. D. (2014). Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling. Genetics in Medicine. doi:10.1038/gim.2014.125.PubMedPubMedCentral Butrick, M., Kelly, S., Peshkin, B. N., Luta, G., Nusbaum, R., Hooker, G. W., & Schwartz, M. D. (2014). Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling. Genetics in Medicine. doi:10.​1038/​gim.​2014.​125.PubMedPubMedCentral
go back to reference Frank, T. S., Deffenbaugh, A. M., Reid, J. E., Hulick, M., Ward, B. E., Lingenfelter, B., & Critchfield, G. C. (2002). Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. Journal of Clinical Oncology, 20(6), 1480–1490.CrossRefPubMed Frank, T. S., Deffenbaugh, A. M., Reid, J. E., Hulick, M., Ward, B. E., Lingenfelter, B., & Critchfield, G. C. (2002). Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. Journal of Clinical Oncology, 20(6), 1480–1490.CrossRefPubMed
go back to reference Ganz, P. A., Guadagnoli, E., Landrum, M. B., Lash, T. L., Rakowski, W., & Silliman, R. A. (2003). Breast cancer in older women: quality of life and psychosocial adjustment in the 15 months after diagnosis. Journal of Clinical Oncology, 21(21), 4027–4033. doi:10.1200/JCO.2003.08.097.CrossRefPubMed Ganz, P. A., Guadagnoli, E., Landrum, M. B., Lash, T. L., Rakowski, W., & Silliman, R. A. (2003). Breast cancer in older women: quality of life and psychosocial adjustment in the 15 months after diagnosis. Journal of Clinical Oncology, 21(21), 4027–4033. doi:10.​1200/​JCO.​2003.​08.​097.CrossRefPubMed
go back to reference Gilpin, C. A., Carson, N., & Hunter, A. G. (2000). A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clinical Genetics, 58(4), 299–308.CrossRefPubMed Gilpin, C. A., Carson, N., & Hunter, A. G. (2000). A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clinical Genetics, 58(4), 299–308.CrossRefPubMed
go back to reference Goldberg, D. P., Gater, R., Sartorius, N., Ustun, T. B., Piccinelli, M., Gureje, O., & Rutter, C. (1997). The validity of two versions of the GHQ in the WHO study of mental illness in general health care. Psychological Medicine, 27(1), 191–197.CrossRefPubMed Goldberg, D. P., Gater, R., Sartorius, N., Ustun, T. B., Piccinelli, M., Gureje, O., & Rutter, C. (1997). The validity of two versions of the GHQ in the WHO study of mental illness in general health care. Psychological Medicine, 27(1), 191–197.CrossRefPubMed
go back to reference Hermsen, B. B., Olivier, R. I., Verheijen, R. H., van Beurden, M., de Hullu, J. A., Massuger, L. F., & Rookus, M. A. (2007). No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers; an observational follow-up study. British Journal of Cancer, 96(9), 1335–1342.PubMedPubMedCentral Hermsen, B. B., Olivier, R. I., Verheijen, R. H., van Beurden, M., de Hullu, J. A., Massuger, L. F., & Rookus, M. A. (2007). No efficacy of annual gynaecological screening in BRCA1/2 mutation carriers; an observational follow-up study. British Journal of Cancer, 96(9), 1335–1342.PubMedPubMedCentral
go back to reference Horowitz, M., Wilner, N., & Alvarez, W. (1979). Impact of event scale: a measure of subjective stress. Psychosomatic Medicine, 41(3), 209–218.CrossRefPubMed Horowitz, M., Wilner, N., & Alvarez, W. (1979). Impact of event scale: a measure of subjective stress. Psychosomatic Medicine, 41(3), 209–218.CrossRefPubMed
go back to reference Kurian, A. W., Sigal, B. M., & Plevritis, S. K. (2010). Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. Journal of Clinical Oncology, 28(2), 222–231.CrossRefPubMedPubMedCentral Kurian, A. W., Sigal, B. M., & Plevritis, S. K. (2010). Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers. Journal of Clinical Oncology, 28(2), 222–231.CrossRefPubMedPubMedCentral
go back to reference Lerman, C., Daly, M., Masny, A., & Balshem, A. (1994). Attitudes about genetic testing for breast-ovarian cancer susceptibility. Journal of Clinical Oncology, 12(4), 843–850.PubMed Lerman, C., Daly, M., Masny, A., & Balshem, A. (1994). Attitudes about genetic testing for breast-ovarian cancer susceptibility. Journal of Clinical Oncology, 12(4), 843–850.PubMed
go back to reference Meiser, B., Gleeson, M., Kasparian, N., Barlow-Stewart, K., Ryan, M., Watts, K., & Tucker, K. (2012). There is no decision to make: experiences and attitudes toward treatment-focused genetic testing among women diagnosed with ovarian cancer. Gynecologic Oncology, 124(1), 153–157. doi:10.1016/j.ygyno.2011.09.040.CrossRefPubMed Meiser, B., Gleeson, M., Kasparian, N., Barlow-Stewart, K., Ryan, M., Watts, K., & Tucker, K. (2012). There is no decision to make: experiences and attitudes toward treatment-focused genetic testing among women diagnosed with ovarian cancer. Gynecologic Oncology, 124(1), 153–157. doi:10.​1016/​j.​ygyno.​2011.​09.​040.CrossRefPubMed
go back to reference Metcalfe, K. A., Poll, A., Royer, R., Llacuachaqui, M., Tulman, A., Sun, P., & Narod, S. A. (2010). Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. Journal of Clinical Oncology, 28(3), 387–391.CrossRefPubMed Metcalfe, K. A., Poll, A., Royer, R., Llacuachaqui, M., Tulman, A., Sun, P., & Narod, S. A. (2010). Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. Journal of Clinical Oncology, 28(3), 387–391.CrossRefPubMed
go back to reference Nelson, H. D., Pappas, M., Zakher, B., Mitchell, J. P., Okinaka-Hu, L., & Fu, R. (2014). Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: A Systematic Review to Update the U.S. Preventive Services Task Force Recommendation. Ann Intern Med, 160(4). doi: 10.7326/M13-1684 Nelson, H. D., Pappas, M., Zakher, B., Mitchell, J. P., Okinaka-Hu, L., & Fu, R. (2014). Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: A Systematic Review to Update the U.S. Preventive Services Task Force Recommendation. Ann Intern Med, 160(4). doi: 10.​7326/​M13-1684
go back to reference Netherlands, Comprehensive Cancer Centres. (2012). Oncoline Guideline: Breast cancer. Netherlands, Comprehensive Cancer Centres. (2012). Oncoline Guideline: Breast cancer.
go back to reference Ong, L. M., Visser, M. R., van Zuuren, F. J., Rietbroek, R. C., Lammes, F. B., & de Haes, J. C. (1999). Cancer patients’ coping styles and doctor-patient communication. Psychooncology, 8(2), 155–166.CrossRefPubMed Ong, L. M., Visser, M. R., van Zuuren, F. J., Rietbroek, R. C., Lammes, F. B., & de Haes, J. C. (1999). Cancer patients’ coping styles and doctor-patient communication. Psychooncology, 8(2), 155–166.CrossRefPubMed
go back to reference Rigter, T., van Aart, C. J., Elting, M. W., Waisfisz, Q., Cornel, M. C., & Henneman, L. (2014). Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients. Clinical Genetics, 85(5), 417–422. doi:10.1111/cge.12299.CrossRefPubMedPubMedCentral Rigter, T., van Aart, C. J., Elting, M. W., Waisfisz, Q., Cornel, M. C., & Henneman, L. (2014). Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients. Clinical Genetics, 85(5), 417–422. doi:10.​1111/​cge.​12299.CrossRefPubMedPubMedCentral
go back to reference Robson, M. E., Bradbury, A. R., Arun, B., Domchek, S. M., Ford, J. M., Hampel, H. L., & Lindor, N. M. (2015). American society of clinical oncology policy statement update: genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology. doi:10.1200/JCO.2015.63.0996.PubMed Robson, M. E., Bradbury, A. R., Arun, B., Domchek, S. M., Ford, J. M., Hampel, H. L., & Lindor, N. M. (2015). American society of clinical oncology policy statement update: genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology. doi:10.​1200/​JCO.​2015.​63.​0996.PubMed
go back to reference Schwartz, M. D., Valdimarsdottir, H. B., Peshkin, B. N., Mandelblatt, J., Nusbaum, R., Huang, A. T., & King, L. (2014). Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. Journal of Clinical Oncology, 32(7), 618–626. doi:10.1200/JCO.2013.51.3226.CrossRefPubMedPubMedCentral Schwartz, M. D., Valdimarsdottir, H. B., Peshkin, B. N., Mandelblatt, J., Nusbaum, R., Huang, A. T., & King, L. (2014). Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. Journal of Clinical Oncology, 32(7), 618–626. doi:10.​1200/​JCO.​2013.​51.​3226.CrossRefPubMedPubMedCentral
go back to reference Sie, A. S., Spruijt, L., van Zelst-Stams, W. A., Mensenkamp, A. R., Ligtenberg, M. J., Brunner, H. G., . . . Hoogerbrugge, N. (2012). DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct. BMC Womens Health, 12, 12. doi: 10.1186/1472-6874-12-12 Sie, A. S., Spruijt, L., van Zelst-Stams, W. A., Mensenkamp, A. R., Ligtenberg, M. J., Brunner, H. G., . . . Hoogerbrugge, N. (2012). DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct. BMC Womens Health, 12, 12. doi: 10.​1186/​1472-6874-12-12
go back to reference Sie, A. S., Prins, J. B., Spruijt, L., Kets, C. M., & Hoogerbrugge, N. (2013). Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes. Familial Cancer. doi:10.1007/s10689-013-9644-9.PubMed Sie, A. S., Prins, J. B., Spruijt, L., Kets, C. M., & Hoogerbrugge, N. (2013). Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes. Familial Cancer. doi:10.​1007/​s10689-013-9644-9.PubMed
go back to reference Sie, A. S., van Zelst-Stams, W. A., Spruijt, L., Mensenkamp, A. R., Ligtenberg, M. J., Brunner, H. G., & Hoogerbrugge, N. (2014a). More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Familial Cancer, 13(2), 143–151. doi:10.1007/s10689-013-9686-z.PubMed Sie, A. S., van Zelst-Stams, W. A., Spruijt, L., Mensenkamp, A. R., Ligtenberg, M. J., Brunner, H. G., & Hoogerbrugge, N. (2014a). More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Familial Cancer, 13(2), 143–151. doi:10.​1007/​s10689-013-9686-z.PubMed
go back to reference Sie, A. S., Prins, J. B., van Zelst-Stams, W. A., Veltman, J. A., Feenstra, I., & Hoogerbrugge, N. (2014b). Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress. Clinical Genetics. doi:10.1111/cge.12433.PubMed Sie, A. S., Prins, J. B., van Zelst-Stams, W. A., Veltman, J. A., Feenstra, I., & Hoogerbrugge, N. (2014b). Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress. Clinical Genetics. doi:10.​1111/​cge.​12433.PubMed
go back to reference Trainer, A. H., Lewis, C. R., Tucker, K., Meiser, B., Friedlander, M., & Ward, R. L. (2010). The role of BRCA mutation testing in determining breast cancer therapy. Nature Reviews. Clinical Oncology, 7(12), 708–717.CrossRefPubMed Trainer, A. H., Lewis, C. R., Tucker, K., Meiser, B., Friedlander, M., & Ward, R. L. (2010). The role of BRCA mutation testing in determining breast cancer therapy. Nature Reviews. Clinical Oncology, 7(12), 708–717.CrossRefPubMed
go back to reference van Asperen, C. J., Jonker, M. A., Jacobi, C. E., van Diemen-Homan, J. E., Bakker, E., Breuning, M. H., & de Bock, G. H. (2004). Risk estimation for healthy women from breast cancer families: new insights and new strategies. Cancer Epidemiology, Biomarkers and Prevention, 13(1), 87–93.CrossRefPubMed van Asperen, C. J., Jonker, M. A., Jacobi, C. E., van Diemen-Homan, J. E., Bakker, E., Breuning, M. H., & de Bock, G. H. (2004). Risk estimation for healthy women from breast cancer families: new insights and new strategies. Cancer Epidemiology, Biomarkers and Prevention, 13(1), 87–93.CrossRefPubMed
go back to reference van der Ploeg, E., Mooren, T. T., Kleber, R. J., van der, V., & Brom, D. (2004). Construct validation of the Dutch version of the impact of event scale. Psychological Assessment, 16(1), 16–26.CrossRefPubMed van der Ploeg, E., Mooren, T. T., Kleber, R. J., van der, V., & Brom, D. (2004). Construct validation of the Dutch version of the impact of event scale. Psychological Assessment, 16(1), 16–26.CrossRefPubMed
go back to reference van Zuuren, F. J., de Groot, K. I., Mulder, N. L., & Muris, P. (1996). Coping with medical threat: an evaluation of the threatening medical situations inventory (TMSI). Perspective and Individual Differences, 21(1), 21–31.CrossRef van Zuuren, F. J., de Groot, K. I., Mulder, N. L., & Muris, P. (1996). Coping with medical threat: an evaluation of the threatening medical situations inventory (TMSI). Perspective and Individual Differences, 21(1), 21–31.CrossRef
go back to reference Voorwinden, J. S., Jaspers, J. P., ter Beest, J. G., Kievit, Y., Sijmons, R. H., & Oosterwijk, J. C. (2012). The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter. Clinical Genetics, 81(5), 421–429. doi:10.1111/j.1399-0004.2011.01811.x.CrossRefPubMed Voorwinden, J. S., Jaspers, J. P., ter Beest, J. G., Kievit, Y., Sijmons, R. H., & Oosterwijk, J. C. (2012). The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter. Clinical Genetics, 81(5), 421–429. doi:10.​1111/​j.​1399-0004.​2011.​01811.​x.CrossRefPubMed
Metadata
Title
High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling
Authors
Aisha S. Sie
Liesbeth Spruijt
Wendy A. G. van Zelst-Stams
Arjen R. Mensenkamp
Marjolijn J. L. Ligtenberg
Han G. Brunner
Judith B. Prins
Nicoline Hoogerbrugge
Publication date
01-06-2016
Publisher
Springer US
Published in
Journal of Genetic Counseling / Issue 3/2016
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI
https://doi.org/10.1007/s10897-015-9899-4

Other articles of this Issue 3/2016

Journal of Genetic Counseling 3/2016 Go to the issue