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

01-06-2016 | Original Research

Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland

Authors: Rosie O’Shea, Marie Meany, Cliona Carroll, Nuala Cody, David Healy, Andrew Green, Sally Ann Lynch

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

Login to get access

Abstract

The traditional model of providing cancer predictive testing services is changing. Many genetic centres are now offering a choice to patients in how they receive their results instead of the typical face-to-face disclosure. In view of this shift in practice and the increasing demand on the ROI cancer predictive testing service, a 2 year retrospective study on patient preference in how to receive a Breast Cancer (BRCA) predictive result was carried out. Results showed that 71.7 % of respondents would have liked to have the option of obtaining their results by telephone or by letter. However, when asked about their actual experience of BRCA predictive results disclosure 40.6 % did still value the face-to-face contact, while 44.9 % would still have preferred to receive results by either post or telephone. No significant difference was found between males and females (p > 0.05) and those who tested negative or positive for the BRCA mutation (p > 0.05) in wanting a choice in how their results were disclosed. While the majority expressed a wish to have a choice in how to receive their results, it is important not to underestimate the value of a face-to-face encounter in these circumstances.
Appendix
Available only for authorised users
Literature
go back to reference Akaike, H. (1974). A new look at the statistical model identification. IEEE Transactions on Automatic Control, 19(6), 716–723.CrossRef Akaike, H. (1974). A new look at the statistical model identification. IEEE Transactions on Automatic Control, 19(6), 716–723.CrossRef
go back to reference Aktan-Collan, K., Mecklin, J. P., de la Chapelle, A., Peltomaki, P., Uutela, A., & Kaariainen, H. (2000). Evaluation of a counselling protocol for predicitive genetic testing for hereditary non-polyposis colorectal cancer. Journal of Medical Genetics, 37, 108–13.CrossRefPubMedPubMedCentral Aktan-Collan, K., Mecklin, J. P., de la Chapelle, A., Peltomaki, P., Uutela, A., & Kaariainen, H. (2000). Evaluation of a counselling protocol for predicitive genetic testing for hereditary non-polyposis colorectal cancer. Journal of Medical Genetics, 37, 108–13.CrossRefPubMedPubMedCentral
go back to reference Baumanis, L., Evans, J. P., Callanan, N., & Susswein, L. R. (2009). Telephoned BRCA1/2 genetic test results: prevalence, practice, and patient satisfaction. Journal of Genetic Couselling, 18, 447–463.CrossRef Baumanis, L., Evans, J. P., Callanan, N., & Susswein, L. R. (2009). Telephoned BRCA1/2 genetic test results: prevalence, practice, and patient satisfaction. Journal of Genetic Couselling, 18, 447–463.CrossRef
go back to reference Beran, T. M., Stanton, A. L., Kwan, L., Seldon, J., Bower, J. E., Vodermaier, A., & Ganz, P. A. (2008). The trajectory of psychological impact in BRCA ½ genetic testing: does time heal? Annals of Behaviour Medicine, 36, 107–16.CrossRef Beran, T. M., Stanton, A. L., Kwan, L., Seldon, J., Bower, J. E., Vodermaier, A., & Ganz, P. A. (2008). The trajectory of psychological impact in BRCA ½ genetic testing: does time heal? Annals of Behaviour Medicine, 36, 107–16.CrossRef
go back to reference Berliner, J. L., & Fay, A. M. (2007). Risk assessment and genetic counselling for hereditary breast and ovarian cancer: recommendations of the national society of genetic counselors. Journal of Genetic Counselling, 16, 241–260.CrossRef Berliner, J. L., & Fay, A. M. (2007). Risk assessment and genetic counselling for hereditary breast and ovarian cancer: recommendations of the national society of genetic counselors. Journal of Genetic Counselling, 16, 241–260.CrossRef
go back to reference Bosch, N., Junyent, N., Gadea, N., Brunet, J., Ramon Cajal, T., Torres, A., Grana, B., Velasco, A., Darder, E., Mensa, I., & Balmana, J. (2012). Breast, 21, 755–60.CrossRefPubMed Bosch, N., Junyent, N., Gadea, N., Brunet, J., Ramon Cajal, T., Torres, A., Grana, B., Velasco, A., Darder, E., Mensa, I., & Balmana, J. (2012). Breast, 21, 755–60.CrossRefPubMed
go back to reference Bradbury, A. R., Patrick-Miller, L., Fetzer, D., Egleston, B., Cummings, S. A., Forman, A., Bealin, L., Peterson, C., Corbman, M., O’Connell, J., & Daly, M. B. (2011). Genetic counselor opinions of and experiences with telephone communication of BRCA1/2 test results. Clinical Genetics, 79(2), 125–31.CrossRefPubMedPubMedCentral Bradbury, A. R., Patrick-Miller, L., Fetzer, D., Egleston, B., Cummings, S. A., Forman, A., Bealin, L., Peterson, C., Corbman, M., O’Connell, J., & Daly, M. B. (2011). Genetic counselor opinions of and experiences with telephone communication of BRCA1/2 test results. Clinical Genetics, 79(2), 125–31.CrossRefPubMedPubMedCentral
go back to reference Burnham, K. P., & Anderson, D. R. (2002). Model selection and multimodel inference: A practical information-theoretic approach (2nd ed.). New York: Springer-Velag. Burnham, K. P., & Anderson, D. R. (2002). Model selection and multimodel inference: A practical information-theoretic approach (2nd ed.). New York: Springer-Velag.
go back to reference Halbert, C. H., Stopfer, J. E., McDonald, J., Weathers, B., Collier, A., Troxel, A. B., & Domchek, S. (2011). Long term reactions to genetic testing for BRCA 1 & 2 mutations: does time heal women’s concerns? Journal of Clinical Oncology, 29, 4302–4306.CrossRefPubMedPubMedCentral Halbert, C. H., Stopfer, J. E., McDonald, J., Weathers, B., Collier, A., Troxel, A. B., & Domchek, S. (2011). Long term reactions to genetic testing for BRCA 1 & 2 mutations: does time heal women’s concerns? Journal of Clinical Oncology, 29, 4302–4306.CrossRefPubMedPubMedCentral
go back to reference Hamilton, J. G., Lobel, M., & Moyer, A. (2009). Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta analytic review. Health Psychology, 28, 510–518.CrossRefPubMedPubMedCentral Hamilton, J. G., Lobel, M., & Moyer, A. (2009). Emotional distress following genetic testing for hereditary breast and ovarian cancer: a meta analytic review. Health Psychology, 28, 510–518.CrossRefPubMedPubMedCentral
go back to reference Helmes, A. W., Culver, J. O., & Bowen, D. J. (2006). Results of a randomized study of telephone versus in-person breast cancer risk counselling. Patient Education and Counselling, 64, 96–103.CrossRef Helmes, A. W., Culver, J. O., & Bowen, D. J. (2006). Results of a randomized study of telephone versus in-person breast cancer risk counselling. Patient Education and Counselling, 64, 96–103.CrossRef
go back to reference Jenkins, J., Calzone, K. A., Dimond, E., Liewehr, D. J., Steinberg, S. M., Jourkiv, O., Klein, P., Soballe, P. W., Prindiville, S. A., & Kirsch, I. R. (2007). Randomizes comparison of phone versus in-person BRCA1/2 predisposition genetic test result disclosure counselling. Genetics in Medicine, 9, 487–495.CrossRefPubMed Jenkins, J., Calzone, K. A., Dimond, E., Liewehr, D. J., Steinberg, S. M., Jourkiv, O., Klein, P., Soballe, P. W., Prindiville, S. A., & Kirsch, I. R. (2007). Randomizes comparison of phone versus in-person BRCA1/2 predisposition genetic test result disclosure counselling. Genetics in Medicine, 9, 487–495.CrossRefPubMed
go back to reference Klemp, J. R., O’Dea, A., Chamberlain, C., & Fabian, C. J. (2005). Patient satisfaction of BRCA ½ genetic testing by women at high risk for breast cancer participating in a prevention trial. Familial Cancer, 4, 279–284.CrossRefPubMed Klemp, J. R., O’Dea, A., Chamberlain, C., & Fabian, C. J. (2005). Patient satisfaction of BRCA ½ genetic testing by women at high risk for breast cancer participating in a prevention trial. Familial Cancer, 4, 279–284.CrossRefPubMed
go back to reference Liede, A., Metcalfe, K., Hanna, D., Hoodfar, E., Snyder, C., Durham, C., Lynch, H. T., & Narod, A. (2000). Evaluation of the needs of male carriers of mutations in BRCA 1 or BRCA 2 who have undergone genetic counselling. American Journal of Human Genetics, 67, 1494–1504.CrossRefPubMedPubMedCentral Liede, A., Metcalfe, K., Hanna, D., Hoodfar, E., Snyder, C., Durham, C., Lynch, H. T., & Narod, A. (2000). Evaluation of the needs of male carriers of mutations in BRCA 1 or BRCA 2 who have undergone genetic counselling. American Journal of Human Genetics, 67, 1494–1504.CrossRefPubMedPubMedCentral
go back to reference Lodder, L., Frets, P. G., Trijsburg, R. W., Tibben, A., Meijers-Heijboer, E. J., Duivenvoorden, H. J., Wagner, A., van der Meer, C. A., Devilee, P., Cornelisse, C. J., & Niermeijer, M. F. (2001). Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing. European Journal of Human Genetics, 9, 492–500.CrossRefPubMed Lodder, L., Frets, P. G., Trijsburg, R. W., Tibben, A., Meijers-Heijboer, E. J., Duivenvoorden, H. J., Wagner, A., van der Meer, C. A., Devilee, P., Cornelisse, C. J., & Niermeijer, M. F. (2001). Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing. European Journal of Human Genetics, 9, 492–500.CrossRefPubMed
go back to reference Rice C.D., Ruschman J.G., Martin L.J., Manders J.B., Miller E. (2009). Retrospective comparison of patient outcomes after in-person and telephone results disclosure counselling for BRCA1/2 genetic testing. Familial Cancer. Rice C.D., Ruschman J.G., Martin L.J., Manders J.B., Miller E. (2009). Retrospective comparison of patient outcomes after in-person and telephone results disclosure counselling for BRCA1/2 genetic testing. Familial Cancer.
go back to reference Sangha, K., Dircks, A., & Langlois, S. (2003). Assessment of the effectiveness of genetic counseling by telephone compared to a clinic visit. Journal of Genetic Counseling, 12(2), 171–184.CrossRefPubMed Sangha, K., Dircks, A., & Langlois, S. (2003). Assessment of the effectiveness of genetic counseling by telephone compared to a clinic visit. Journal of Genetic Counseling, 12(2), 171–184.CrossRefPubMed
go back to reference Struewing, J. P., Lerman, C., Kase, R. G., Giambarresi, T. R., & Tucker, M. A. (1995). Anticpated uptake and impact of genetic testing in hereditary breast and ovarian cancer families. Cancer Epidemiology Biomakers and prevention, 4, 169–173. Struewing, J. P., Lerman, C., Kase, R. G., Giambarresi, T. R., & Tucker, M. A. (1995). Anticpated uptake and impact of genetic testing in hereditary breast and ovarian cancer families. Cancer Epidemiology Biomakers and prevention, 4, 169–173.
go back to reference Sutphen, R., Davila, B., Shappell, H., Holtje, T., Vadaparampil, S., Friedman, S., Toscano, M., & Armstrong, J. (2010). Real world experience with cancer genetic counselling via telephone. Familial Cancer, 9(4), 681–9.CrossRefPubMedPubMedCentral Sutphen, R., Davila, B., Shappell, H., Holtje, T., Vadaparampil, S., Friedman, S., Toscano, M., & Armstrong, J. (2010). Real world experience with cancer genetic counselling via telephone. Familial Cancer, 9(4), 681–9.CrossRefPubMedPubMedCentral
go back to reference Trepanier, A., Aherns, M., McKinnon, W., Peters, J., Stopfer, J., & Grumet, S. C. (2004). Genetic cancer risk assessment and counselling: recommendation of the national society of genetic counsellors. Journal of Genetic Counselling, 13, 83–114.CrossRef Trepanier, A., Aherns, M., McKinnon, W., Peters, J., Stopfer, J., & Grumet, S. C. (2004). Genetic cancer risk assessment and counselling: recommendation of the national society of genetic counsellors. Journal of Genetic Counselling, 13, 83–114.CrossRef
go back to reference Tsu, R. C., Burm, M. L., Jennifer, A. G., & Sells, C. W. (2002). Telephone vs. face-to-face notification of HIV reults in high risk youth. Journal of Adolescent Health, 30, 154–160. Tsu, R. C., Burm, M. L., Jennifer, A. G., & Sells, C. W. (2002). Telephone vs. face-to-face notification of HIV reults in high risk youth. Journal of Adolescent Health, 30, 154–160.
go back to reference Wham, D., Vu, T., Chan-Smutko, G., Kobelka, C., Urbauer, D., & Heald, B. (2010). Assessment of clinical practices among cancer genetic counselors. Familial Cancer, 9, 459–68.CrossRefPubMed Wham, D., Vu, T., Chan-Smutko, G., Kobelka, C., Urbauer, D., & Heald, B. (2010). Assessment of clinical practices among cancer genetic counselors. Familial Cancer, 9, 459–68.CrossRefPubMed
go back to reference Wolcott, H. (1990). Writing up qualitative research. London: Sage. Wolcott, H. (1990). Writing up qualitative research. London: Sage.
go back to reference Zilliacus, E. M., Meiser, B., Lobb, E. A., Kirk, J., Warwick, L., & Tucker, K. (2010). Women’s experience of telehealth cancer genetic counselling. Journal of Genetic Counselling, 19, 463–72.CrossRef Zilliacus, E. M., Meiser, B., Lobb, E. A., Kirk, J., Warwick, L., & Tucker, K. (2010). Women’s experience of telehealth cancer genetic counselling. Journal of Genetic Counselling, 19, 463–72.CrossRef
Metadata
Title
Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland
Authors
Rosie O’Shea
Marie Meany
Cliona Carroll
Nuala Cody
David Healy
Andrew Green
Sally Ann Lynch
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/s10897-015-9887-8

Other articles of this Issue 3/2016

Journal of Genetic Counseling 3/2016 Go to the issue