Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three year follow-up

Description/Abstract

The aim of this prospective multi-centre UK study is to assess long-term impact of genetic testing for breast/ovarian cancer predisposition in a clinical cohort. This study assesses risk management, distress and insurance problems 3 years post-testing. Participants are adults unaffected with cancer from families with a known BRCA1/2 mutation. 193/285 (70% response) participants at 9 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. 55% of female carriers opted for risk reducing surgery; 43% oophorectomy, 34% mastectomy. 89% had mammograms compared with 47% non-carriers. 36% non-carriers ≥50 years did not have a mammogram post-test. 22% male carriers had colorectal and 44% prostate screening compared with 5% and 19% non-carriers respectively. 7% carriers and 1% non-carriers developed cancer. Distress levels did not differ in carriers and non-carriers at 3 year follow-up. 40% 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 insurance problems 3 years post-testing. Participants are adults unaffected with cancer from families with a known BRCA1/2 mutation. 193/285 (70% response) participants at 9 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. 55% of female carriers opted for risk reducing surgery; 43% oophorectomy, 34% mastectomy. 89% had mammograms compared with 47% non-carriers. 36% non-carriers ≥50 years did not have a mammogram post-test. 22% male carriers had colorectal and 44% prostate screening compared with 5% and 19% non-carriers respectively. 7% carriers and 1% non-carriers developed cancer. Distress levels did not differ in carriers and non-carriers at 3 year follow-up. 40% 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.