1. ¹Department of Psychological Medicine, Royal Marsden NHS Foundation Trust, London & Sutton, SM2 5PT, England
2. ²Macmillan Research Unit, School of Nursing and Midwifery, University of Southampton, SO17 1BJ, England
3. ³Translational Cancer Genetics Team & Cancer Genetics Unit, Royal Marsden NHS Trust, London & Sutton, SM2 5PT, England
4. ⁴Wessex Clinical Genetics Service, Princess Ann Hospital, Southampton, SO16 5YA, England
5. ⁵Department of Computing, Royal Marsden NHS Trust, Sutton, SM2 5PT, England
6. ⁶Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow, G3 8SJ, Scotland
7. ⁷Genetics Centre, Institute of Child Health, London, WC1N, England
8. ⁸Medical Genetics, Belfast City Hospital, Belfast, BT9 7AB, Northern Ireland
9. ⁹Christie Hospital, Manchester, M20 4BX, England
10. ¹⁰Department of Medical Genetics, St Mary's Hospital, Manchester, M13 0JH, England

Correspondence: Dr M Watson, Department of Psychological Medicine, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey SM2 5PT, England. E-mail: Maggie.Watson@rmh.nthames.nhs.uk

¹¹Psychosocial Study Collaborators: I Ambus, A Ardern-Jones, S Ashley, J Ayres, T Cole, J Cook, R Davidson, S Davolls, D Eccles, R Eeles, G Evans, C Foster, H Gregory, P Hopwood, R Houlston, J Mackay, P Morrison, V Murday & M Watson

Received 11 May 2004; Revised 8 September 2004; Accepted 9 September 2004; Published online 26 October 2004.

Abstract

This multi-centre UK study assesses the impact of predictive testing for breast and ovarian cancer predisposition genes (BRCA1/2) in the clinical context. In the year following predictive testing, 261 adults (59 male) from nine UK genetics centres participated; 91 gene mutation carriers and 170 noncarriers. Self-report questionnaires were completed at baseline (pre-genetic testing) and 1, 4 and 12 months following the genetic test result. Men were assessed for general mental health (by general health questionnaire (GHQ)) and women for general mental health, cancer-related worry, intrusive and avoidant thoughts, perception of risk and risk management behaviour. Main comparisons were between female carriers and noncarriers on all measures and men and women for general mental health. Female noncarriers benefited psychologically, with significant reductions in cancer-related worry following testing (P<0.001). However, younger female carriers (<50 years) showed a rise in cancer-related worry 1 month post-testing (P<0.05). This returned to pre-testing baseline levels 12 months later, but worry remained significantly higher than noncarriers throughout (P<0.01). There were no significant differences in GHQ scores between males and females (both carriers and noncarriers) at any time point. Female carriers engaged in significantly more risk management strategies than noncarriers in the year following testing (e.g. mammograms; 92% carriers vs 30% noncarriers). In the 12 months post-testing, 28% carriers had bilateral risk-reducing mastectomy and 31% oophorectomy. Oophorectomy was confined to older (mean 41 yrs) women who already had children. However, worry about cancer was not assuaged by surgery following genetic testing, and this requires further investigation. In all, 20% of female carriers reported insurance problems. The data show persistent worry in younger female gene carriers and confirm changes in risk management consistent with carrier status. Men were not adversely affected by genetic testing in terms of their general mental health.