Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer

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Abstract

This multicenter study evaluated the impact of genetic counseling in 218 women at risk of developing hereditary breast cancer. Women were assessed prior to counseling and 12-month post-counseling using self-administered, mailed questionnaires. Compared to baseline, breast cancer genetics knowledge was increased significantly at follow-up, and greater increases in knowledge were associated with educational level. Breast cancer anxiety decreased significantly from baseline to follow-up, and these decreases were associated with improvements in perceived risk. A significant decrease in clinical breast examination was observed at the 12-month follow-up. Findings suggest that women with a family history of breast cancer benefit from attending familial cancer clinics as it leads to increases in breast cancer genetics knowledge and decreases in breast cancer anxiety. The lowered rates of clinical breast examination indicate that the content of genetic counseling may need to be reviewed to ensure that women receive and take away the right message.

Introduction

The cloning of the two breast cancer genes BRCA1 and BRCA2 has made possible predisposition testing of unaffected individuals [1], [2]. The estimated risk of breast cancer by age 70 associated with germline mutations in BRCA1 and BRCA2 is between 65 and 85% [1], [2]. It is to be expected that conventional models of genetic counseling will be affected by the increasing availability of genetic testing for breast cancer predisposition. Given the complexity of the information to be conveyed and its potential impact on decision making about screening and preventive strategies, the effectiveness of genetic counseling in meeting its objectives needs to be assessed.

Relatively few studies have assessed the long-term outcomes of genetic counseling [3], [4], [5], [6]. Studies found that improvements in perceived breast cancer risk were retained 12-month post-counseling [3], [4], [5]. However, no statistically significant changes from baseline were observed for breast cancer anxiety [4], generalized anxiety [5], and generalized psychological distress [4], [5] 12-month post-counseling. By contrast, Lerman et al. found that amongst women with lower educational levels who received breast cancer risk counseling, breast cancer anxiety was significantly reduced at follow-up compared with a group of women receiving a general health education session [7]. No changes were observed amongst women with higher educational levels when compared with the control group [7]. In summary, most previous studies suggest that genetic counseling succeeds in improving women’s accuracy of perceived risk, but fails to lead to reductions in psychological distress.

Schwartz et al. assessed the impact of breast cancer risk counseling on mammography uptake amongst relatives of women with breast cancer and found that among women with lower educational levels counseling led to reduced mammography uptake 1-year post-counseling [6]. The findings by Lerman et al. and Schwartz et al. raise some concern as they suggest that breast cancer risk counseling may lead women with lower educational levels to feel reassured to the degree that they consider mammographic screening to be unnecessary [6], [7]. Previous evidence documents that increasing breast cancer anxiety may promote mammographic screening [8]. Thus, while women with high levels of anxiety can be expected to benefit from anxiety reduction, in those with moderate anxiety levels further reductions in anxiety may contribute to under-utilization of mammographic screening.

The objective of our study was to assess the long-term impact of genetic counseling in a high-risk sample of women attending familial cancer clinics. The aims of our study were three-fold. We wished to replicate findings from previous studies suggesting that educational level is an important predictor of the impact of genetic counseling and to assess the mediators of reductions of breast cancer anxiety and screening uptake, if any. To our knowledge, no previous studies assessed the impact of genetic counseling on breast cancer genetics knowledge, and our study thus provides valuable data on this issue. Finally, no data are currently available on the long-term impact of genetic counseling in women outside the UK and the US. Given the worldwide variation in the professional identity of providers of genetic counseling and the possibility that counseling may differ between countries, it appears important to assess whether previous findings on the impact of counseling on perceived risk and psychological adjustment are generalizable to Australian women.

Section snippets

Participants

Data were collected as part of a more comprehensive assessment of attitudes to genetic testing [9], prophylactic surgery [10], [11], and breast cancer screening uptake in women at increased risk of developing hereditary breast cancer [12]. Two hundred and eighteen unaffected women with a family history of breast cancer who approached one of 14 familial cancer clinics and six associated outreach clinics in five Australian states (New South Wales, Victoria, South Australia, Queensland, and

Characteristics of the sample

Of the 276 women who met the eligibility criteria, 30 women declined participation or never returned the baseline questionnaire (response rate of 89%). Amongst women who had returned the baseline questionnaire, 218 women also returned the 12-month follow-up questionnaire. Thus, 79% returned both questionnaires. The median age of the sample was 39, ranging from 18 to 75. Sixty-nine percent had education beyond high school, compared to 37% of women in the general Australian population [22],

Discussion

This study evaluated the impact of genetic counseling on breast cancer genetics knowledge, perceived risk, psychological outcomes, and breast cancer screening uptake in a familial cancer clinic population. We found that breast cancer genetics knowledge was significantly improved 12-month post-counseling. Perhaps not surprisingly, greater increases in knowledge were associated with higher educational levels. Our results confirm findings from previous studies that assessed the short-term impact

Acknowledgements

The authors would like to thank the following individuals for their contributions to this study: Profs. Robert A. Boakes and Stewart Dunn for their methodological advice; Dr. Maggie Watson, for generously discussing similar work; and Dr. Jack Chen for statistical advice. Finally, we are most grateful for the valuable contribution of all the women who participated in this study. This research was supported by Project Grants No. 970929 and 113877 from the National Health and Medical Research

References (26)

  • K.D. McCaul et al.

    What is the relationship between breast cancer risk and mammography screening? A meta-analytic review

    Health Psychol.

    (1996)
  • B. Meiser et al.

    Attitudes to genetic testing for breast cancer susceptibility in women at increased risk of developing hereditary breast cancer

    J. Med. Genet.

    (2000)
  • B. Meiser et al.

    Intention to undergo prophylactic mastectomy in women at increased risk of developing hereditary breast cancer

    J. Clin. Oncol.

    (2000)
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    The members of the Psychological Impact Collaborative Group are in alphabetical order of group, institute or location: Department of Clinical Genetics, Liverpool Hospital (A. Colley); Familial Cancer Service, Westmead Hospital, Sydney (J. Kirk, M. Smith); Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney (M. Clifton, M. Friedlander, M. Gleeson, V. Schnieden, B. Thewes, K. Tiller, M. Tucker); Hunter Genetics, Newcastle (B. Burgess, T. Dudding, G. Turner); Peter MacCallum Cancer Institute, Melbourne (M.A. Young); Queensland Clinical Genetics Services, Brisbane (M. Gattas, A. Hattam, H. Hopkins, L. Stace, J. White); South Australian Clinical Genetics Services, Adelaide (A. Baxendale, S. Daly, E. Haan, G. Suthers, E. Thompson, S. White); Victorian Clinical Genetics Services, Melbourne (A. Bankier, K. Aittomäki, C. Gaff, M. Gardner); University of Sydney (A. Barratt, P. Butow); Western Australian Clinical Genetics Services (D. Elliot, J. Goldblatt, K. Harrop, I. Walpole).

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