title: Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up.
abstract: This prospective multicentre study assesses long-term impact of genetic testing for breast/ovarian cancer predisposition in a clinical cohort. Areas evaluated include risk management, distress and insurance problems 3 years post-testing. Participants are adults unaffected with cancer from families with a known BRCA1/2 mutation. One hundred and ninety-three out of 285 (70% response) participants at nine UK clinical genetics centres completed assessments at 3 years: 80% female; 37% carriers of a BRCA1/2 mutation. In the 3 years, post-genetic testing carriers reported more risk management activities than non-carriers. Fifty-five per cent of female carriers opted for risk reducing surgery; 43% oophorectomy; and 34% mastectomy. Eighty-nine per cent had mammograms compared with 47% non-carriers. Thirty-six per cent non-carriers > or =50 years did not have a mammogram post-test. Twenty-two per cent male carriers had colorectal and 44% prostate screening compared with 5 and 19% non-carriers respectively. Seven per cent carriers and 1% non-carriers developed cancer. Distress levels did not differ in carriers and non-carriers at 3-year follow-up. Forty per cent of female carriers reported difficulties with life and/or health insurance. Given the return to pre-test levels of concern among female non-carriers at 3 years and a substantial minority not engaging in recommended screening, there appears to be a need to help some women understand the meaning of their genetic status.
authors.affiliation: Macmillan Research Unit, School of Nursing and Midwifery, University of Southampton, Southampton, UK.
authors.forename: C
authors.initials: C
authors.lastname: Foster
authors.forename: M
authors.initials: M
authors.lastname: Watson
authors.forename: R
authors.initials: R
authors.lastname: Eeles
authors.forename: D
authors.initials: D
authors.lastname: Eccles
authors.forename: S
authors.initials: S
authors.lastname: Ashley
authors.forename: R
authors.initials: R
authors.lastname: Davidson
authors.forename: J
authors.initials: J
authors.lastname: Mackay
authors.forename: P J
authors.initials: PJ
authors.lastname: Morrison
authors.forename: P
authors.initials: P
authors.lastname: Hopwood
authors.forename: D G R
authors.initials: DG
authors.lastname: Evans
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000235:genetics / Q000517:prevention & control; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease / Q000523:psychology; D005820:Genetic Testing / Q000523:psychology; D006579:Heterozygote; D006801:Humans; D015273:Insurance Selection Bias; D008297:Male; D008327:Mammography; D010051:Ovarian Neoplasms / Q000235:genetics / Q000517:prevention & control; D010052:Ovariectomy; D010349:Patient Compliance; D011471:Prostatic Neoplasms / Q000235:genetics / Q000517:prevention & control; D012308:Risk Management; D006113:United Kingdom