Impact of predictive genetic testing for BRCA1/2 in a clinical cohort: three years on

Description/Abstract

Background: this prospective multi-centre UK
study assesses the impact of predictive genetic
testing for breast/ovarian cancer predisposition
genes (BRCA1 and BRCA2) in a UK clinical cohort.
Methods: assessments at baseline (pre-genetic
testing) and up to three years following the test
result. Participants were recruited from nine UK
clinical genetics centres between 1997 and 2000.
Outcome Measures: self-reported uptake of risk
management options, general mental health,
cancer related concern and problems with
insurance. 193/285 (70 per cent response rate)
participants completed both baseline and threeyear
follow-up assessments.
Findings: in the three years post-testing male and
female gene carriers engaged in more risk
management activities than non-carriers. Female
carriers reported high rates of risk reducing
surgery; 43 per cent underwent oophorectomy and
34 per cent mastectomy. Eighty-nine per cent of
female carriers had mammograms compared with
47 per cent of non-carriers. Twenty-two per cent
of male carriers had colorectal screening and 44
per cent prostate screening compared with five per
cent and 19 per cent of non-carriers respectively.
Seven per cent of gene carriers and 0.8 per cent of
non-carriers were diagnosed with cancer. Carriers
and non-carriers did not differ in levels of
generalised or cancer specific distress. Forty per
cent of female gene carriers reported difficulties
with insurance.
Discussion: the results clarify issues that arise
following predictive genetic testing as part of
routine clinical practice. Carrier status appears to
have no longer term negative impact on mental
health. However, there is a need to clarify risk
management among female non-carriers and
reasons for insurance difficulties. Experiences of
individuals tested for BRCA1/2 are clearly of
relevance to health psychology.