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JNCI Journal of the National Cancer Institute 2000 92(16):1345-1351; doi:10.1093/jnci/92.16.1345
© 2000 by Oxford University Press
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Journal of the National Cancer Institute, Vol. 92, No. 16, 1345-1351, August 16, 2000
© 2000 Oxford University Press

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Randomized Trial of a Specialist Genetic Assessment Service for Familial Breast Cancer

Kate Brain, Jonathon Gray, Paul Norman, Elizabeth France, Cathy Anglim, Garry Barton, Evelyn Parsons, Angus Clarke, Helen Sweetland, Marc Tischkowitz, Jenny Myring, Kate Stansfield, David Webster, Kate Gower-Thomas, Raouf Daoud, Chris Gateley, Ian Monypenny, Hemant Singhal, Lucy Branston, Julian Sampson, Elizabeth Roberts, Robert Newcombe, David Cohen, Cerilan Rogers, Robert Mansel, Peter Harper

Affiliations of authors: K. Brain, J. Gray, E. France, C. Anglim, A. Clarke, M. Tischkowitz, J. Myring, J. Sampson, P. Harper (Institute of Medical Genetics), E. Parsons (School of Nursing Studies), H. Sweetland, K. Stansfield, D. Webster, R. Daoud, C. Gateley, I. Monypenny, H. Singhal, R. Mansel (Department of Surgery), R. Newcombe (Department of Medical Statistics), University of Wales College of Medicine, Heath Park, Cardiff, U.K.; K. Gower-Thomas, L. Branston, E. Roberts, C. Rogers, Breast Test Wales, Cardiff; P. Norman, School of Psychology, Sheffield University, U.K.; G. Barton, D. Cohen, Health Economics Research Unit, Business School, University of Glamorgan, Pontypridd, U.K.

Correspondence to: Kate Brain, Ph.D., Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, U.K. (e-mail: brainke{at}cardiff.ac.uk).

Background: Because of the growing demand for genetic assessment, there is an urgent need for information about what services are appropriate for women with a family history of breast cancer. Our purpose was to compare the psychologic impact and costs of a multidisciplinary genetic and surgical assessment service with those of current service provisions. Methods: We carried out a prospective randomized trial of surgical consultation with (the trial group) and without (the control group) genetic assessment in 1000 women with a family history of breast cancer. All P values are from two-sided tests. Results: Although statistically significantly greater improvement in knowledge about breast cancer was found in the trial group (P = .05), differences between groups in other psychologic outcomes were not statistically significant. Women in both groups experienced statistically significant reductions in anxiety and found attending the clinics to be highly satisfying. An initial specialist genetic assessment cost £14.27 (U.S. $22.55) more than a consultation with a breast surgeon. Counseling and genetic testing of affected relatives, plus subsequent testing of family members of affected relatives identified as mutation carriers, raised the total extra direct and indirect costs per woman in the trial group to £60.98 (U.S. $96.35) over costs for the control subjects. Conclusions: There may be little benefit in providing specialist genetics services to all women with a family history of breast cancer. Further investigation of factors that may mediate the impact of genetic assessment is in progress and may reveal subgroups of women who would benefit from specialist genetics services.


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