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Getting to the Point: What Women Newly Diagnosed With Breast Cancer Want to Know About Treatment-Focused Genetic Testing

Bettina Meiser

Margaret Gleeson

Kaaren Watts

Michelle Peate

Elvira Zilliacus

Kristine Barlow-Stewart

Christobel Saunders

Gillian Mitchell

Judy Kirk

genetics, breast neoplasms, treatment, genetic counseling
ONF 2012, 39(2), E101-E111. DOI: 10.1188/12.ONF.E101-E111

Purpose/Objectives: To identify young women's information preferences regarding treatment-focused genetic testing (TFGT) and to develop and evaluate a novel educational resource.

Research Approach: Qualitative interview study and pilot testing of a novel resource.

Setting: Two familial cancer services and one outpatient oncology clinic in Sydney and Melbourne, Australia.

Participants: 26 women with breast cancer aged 50 years and younger who either previously had TFGT (n = 14) or had a diagnosis of breast cancer within the previous 6-12 months.

Methodologic Approach: Participants were asked about their views of TFGT in semistructured interviews. A brief pamphlet on TFGT then was developed and pilot tested with 17 of the 26 women.

Main Research Variables: Women's attitudes and preferences with regard to timing, mode of delivery, and amount and format of information regarding TFGT were explored.

Findings: Most women wanted to be informed about TFGT at or around the time of their cancer diagnosis via a face-to-face consultation. No clear preference existed for which type of healthcare professional should provide information on TFGT. Brief written information about TFGT was viewed as important supporting material. The educational resource developed was well received.

Conclusions: The potential for more widespread TFGT in the future indicates a need for patient educational materials that enable women to make informed choices about TFGT. This pilot study has provided timely initial evidence on the efficacy of a brief written resource in preparing women for decision making about TFGT.

Interpretation: The resource developed in this study will assist oncology nurses to make important genetic risk information available to women newly diagnosed with breast cancer at a stressful time.

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    Andrews, L., Mireskandari, S. J. J., Thewes, B., Solomon, M., Maccrae, F., & Meiser, B. (2006). Impact of familial adenomatous polyposis on young adults: Attitudes toward genetic testing, support, and information needs. Genetics in Medicine, 8, 697-703. doi:10.1097/01.gim.0000245574.75877.b9
    Ardern-Jones, A., Kenen, R., & Eeles, R. (2005). Too much too soon? Patients' and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40. European Journal of Cancer Care, 14, 272-281. doi:10.1111/j.1365-2354.2005.00574.x
    Choi, D., Lee, M., Bale, A., Carter, D., & Haffty, B. (2004). Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients. Journal of Clinical Oncology, 22, 1638-1645.
    Denzin, J. M., & Lincoln, Y. S. (Eds.). (1994). Handbook of qualitative research. London, England: Sage.
    Fong, P. C., Boss, D. S., Yap, T. A., Tutt, A., Wu, P., Merqui-Roelvink, M., … de Bono, J. S. (2009). Inhibition of poly (ADP-ribose) polymerase in tumors from BRCA mutation carriers. New England Journal of Medicine, 361, 123-134.
    Fong, P. C., Yap, T. A., Boss, D. S., Carden, C. P., Mergui-Roelvink, M., Gourley, C., … Kaye, S. B. (2010). Poly (ADP-ribose) polymerase inhibition: Frequent durable responses in BRCA carrier ovarian cancer correlating with platinum-free interval. Journal of Clinical Oncology, 28, 2512-2519. doi:10.1200/JCO.2009.25.1082
    Gaff, C., & Meiser, B. (2009). Decision aids in clinical genetics. In G. Elwyn and A. Edwards (Eds.), Shared decision-making in health care: Achieving evidence-based patient choice (2nd ed., pp. 353-362). London, England: Oxford University Press.
    Green, M., Biesecker, B. B., McInerney, A. M., Mauger, D. T., & Fost, N. (2001). An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility. American Journal of Medical Genetics, 103, 16-23. doi:10.1002/ajmg.1500
    Green, M. J., Peterson, S. K., Baker, M. W., Harper, G. R., Friedman, L. C., Rubinstein, W. S., & Mauger, D. T. (2004). Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: A randomized controlled trial. JAMA, 292, 442-452.
    Green, M. J., Peterson, S. K., Baker, M. W., Friedman, L. C., Harper, G. R., Rubinstein, W. S., … Mauger, D. T. (2005). Use of an educational computer program before genetic counseling for breast cancer susceptibility: Effects on duration and content of counseling sessions. Genetics in Medicine, 7, 221-229. doi:10.1097/01.GIM.0000159905.13125.86
    Klee, E. W., Hoppman-Chaney, N. L., & Ferber, M. J. (2011). Expanding DNA diagnostic panel testing: Is more better? Expert Review of Molecular Diagnostics, 11, 703-709. doi:10.1586/erm.11.58
    Lalloo, F., Varley, J., Ellis, D., Moran, A., O'Dair, L., Pharaoh, P., … Early Onset Breast Cancer Group. (2003). Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. Lancet, 361, 1101-1102.
    Mancini, J., Nogues, C., Adenis, C., Berthet, P., Bonadona, V., Chompret, A., … Julian-Reynier, C. (2006). Impact of an information booklet on satisfaction and decision making about BRCA genetic testing. European Journal of Cancer, 42, 871-881. doi:10.1016/j.ejca.2005.10.029
    Meiser, B., Mitchell, P., McGirr, H., Van Herten, M., & Schofield, P. (2005). Implications of genetic risk information in families with a high density of bipolar disorder: An exploratory study. Social Science and Medicine, 60, 109-118. doi:10.1016/j.socscimed.2004.04.016
    Meiser, B., Tucker, K., Friedlander, M., Barlow-Stewart, K., Lobb, E., Saunders, C., & Mitchell, G. (2008). Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: A review of the existing literature and a proposed research agenda. Breast Cancer Research, 10, 216. doi:10.1186/bcr2194
    Miles, M. B., & Huberman, A. M. (1994). Qualitative data analysis: An expanded sourcebook (2nd ed.). London, England: Sage.
    National Breast Cancer Centre. (2006). Advice about familial aspects of breast cancer and epithelial ovarian cancer: A guide for health professionals. Sydney, Australia: Author.
    National Health and Medical Research Council. (1999). How to present the evidence for consumers: Preparation of consumers. Canberra, Australia: Commonwealth of Australia.
    O'Connor, A. M., Tugwell, P., Wells, G. A., Elmslie, T., Jolly, E., Hollingworth, G., … Drake, E. (1998). A decision aid for women considering hormone therapy after menopause: Decision support framework and evaluation. Patient Education and Counseling, 33, 267-279. doi:10.1016/S0738-3991(98)00026-3
    Peate, M., Meiser, B., Friedlander, M., Saunders, C., Martinello, R., Wakefield, C. E., & Hickey, M. (2009). Development and pilot testing of a fertility decision aid for young women diagnosed with early breast cancer. Breast Journal, 17, 112-114.
    Quinn, J. E., James, C. R., Stewart, G. E., Mulligan, J. M., White, P., Chang, G. K., … Harkin, D. P. (2007). BRCA1 mRNA expression levels predict for overall survival in ovarian cancer after chemo-therapy. Clinical Cancer Research, 13, 7413-7420. doi:10.1158/1078-0432.CCR-07-1083
    Rottenberg, S., Nygren, A. O., Pajic, M., van Leeuwen, F. W., van der Heijden, I., van de Wetering, K., … Borst, P. (2007). Selective induction of chemotherapy resistance of mammary tumors in a conditional mouse model for hereditary breast cancer. Proceedings of the National Academy of Sciences of the United States of America, 104, 12117-12122. doi:10.1073/pnas.0702955104
    Schlich-Bakker, K., ten Kroode, H., Warlam-Rodenhuis, C., van den Bout, J., & Ausems, M. (2007). Barriers to participating in genetic counselling and BRCA testing during primary treatment for breast cancer. Genetics in Medicine, 9, 766-777. doi:10.1097/GIM.0b013e318159a318
    Schlich-Bakker, K. J., Warlam-Rodenhuis, C. C., van Echtelt, J., van den Bout, J., Ausems, M. G., & ten Kroode, H. F. (2006). Short term psychological distress in patients actively approached for genetic counselling after diagnosis of breast cancer. European Journal of Cancer, 42, 2722-2728. doi:10.1016/j.ejca.2006.05.032
    Schwartz, M., Benkendorf, J. L., Lerman, C., Isaacs, C., Ryan-Roberston, A., & Johnson, L. (2001). Impact of educational print materials on knowledge, attitudes, and interest in BRCA1/BRCA2 testing among Ashkenazi Jewish women. Cancer, 92, 932-940. doi:10.1002/1097-0142(20010815)92:4<932::AID-CNCR1403>3.0.CO;2-Q
    Schwartz, M., Lerman, C., Brogan, B., Peshkin, B., Halbert, C. H., DeMarco, T., … Isaacs, C. (2004). Impact of BRCA1/2 counseling and testing on newly diagnosed breast cancer patients. Journal of Clinical Oncology, 22, 1823-1829.
    Silva, E. (2008). Genetic counseling and clinical management of newly diagnosed breast cancer patients at genetic risk for BRCA germline mutations: Perspective of a surgical oncologist. Familial Cancer, 7, 91-95. doi:10.1007/s10689-007-9167-3
    Thewes, B., Meiser, B., Taylor, A., Phillips, K., Pendlebury, S., Capp, A., … Friedlander, M. (2005). The fertility- and menopause-related information needs of younger women with a diagnosis of early breast cancer. Journal of Clinical Oncology, 23, 5155-5165.
    Trainer, A. H., Lewis, C. R., Tucker, K., Meiser, B., Friedlander, M., & Ward, R. (2010). The role of BRCA mutation testing in determining breast cancer therapy. Nature Reviews. Clinical Oncology, 7, 708-717. doi:10.1038/nrclinonc.2010.175
    Tutt, A., & Ashworth, A. (2008). Can genetic testing guide treatment in breast cancer? European Journal of Cancer, 44, 2774-2780. doi:10.1016/j.ejca.2008.10.009
    Vadaparampil, S. T., Quinn, G. P., Miree, C. A., Brzosowicz, J., Carter, B., & Laronga, C. (2009). Recall of and reactions to a surgeon referral letter for BRCA genetic counseling among high-risk breast cancer patients. Annals of Surgical Oncology, 16, 1973-1981.
    van Roosmalen, M. S., Stalmeier, P. F., Verhoef, L. C., Hoekstra-Weebers, J. E., Oosterwijk, J. C., Hoogerbrugge, N., … van Daal, W. A. J. (2004). Randomized trial of a shared decision-making intervention consisting of trade-offs and individualized treatment information for BRCA1/2 mutation carriers. Journal of Clinical Oncology, 22, 3293-3301. doi:10.1200/JCO.2004.05.066
    Wakefield, C., Meiser, B., Homewood, J., Peate, M., Taylor, A., Lobb, E., … AGenDA Collaborative Group. (2008). A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk. Breast Cancer Research and Treatment, 107, 289-301. doi:10.1007/s10549-007-9539-2
    Wakefield, C., Meiser, B., Homewood, J., Peate, M., Warner, B., Lobb, E., … Tucker, K. (2007). Development and pilot testing of two decision aids for individuals considering genetic testing for cancer risk. Journal of Genetic Counseling, 16, 325-339. doi:10.1007/s10897-006-9068-x
    Wakefield, C., Meiser, B., Homewood, J., Ward, R., O'Donnell, S., Kirk, J., & AGenDA Collaborative Group. (2008). A randomized trial of a decision aid for individuals considering genetic testing for hereditary non-polyposis colorectal cancer risk. Cancer, 113, 956-965. doi:10.1002/cncr.23681