Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer

Abstract

To evaluate the impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with cancer. Longitudinal cohort study including women affected and unaffected with breast or ovarian cancer testing for a BRCA1/2 mutation. Data on well-being (anxiety, depression, cancer related distress, general health), treatment choice, and decision making about cancer prevention were collected at baseline (1 week after blood sampling; affected n = 192, unaffected n = 176) and at follow-up (2 weeks after disclosure of a positive test result; affected n = 23, unaffected n = 66). Women affected and unaffected with breast or ovarian cancer were compared using univariate statistics. Change over time was examined using repeated measures analysis of variance. With respect to well-being, affected women scored worse at baseline. At follow-up, both affected and unaffected women experienced a decline in well-being, which tended to be stronger in affected women. Women diagnosed with cancer less than 1 year previously tended to report a worse well-being than those diagnosed longer ago. With respect to treatment choice, more affected women intended to obtain prophylactic surgery and valued it higher at both time points. With respect to decision making, affected women had a lower preference for participation in decision making at baseline; no differences were found at follow-up. At follow-up, both affected and unaffected women showed an increase in strength of treatment preference and a decrease in decision uncertainty. Disclosure of a positive test result had a negative impact on well-being. Affected women, especially those who have been recently diagnosed with cancer, experienced the worst well-being and could benefit from psychosocial support.

The effects of learning about one’s own genetic susceptibility to alcoholism: a randomized experiment

“…Previous studies, which focused on the effects of revealing genetic susceptibility information to individuals with high family risk profiles for diseases have shown a mix of negative, positive, and null findings. [18][19][20][21][22][23][24][25][26] Even among DTC customers, previous research suggested that the population effects of such reports are largely insignificant but individuals may experience adverse emotional effects after learning about certain specific diseases' susceptibilities. 29 In an effort to draw causal inferences, this study supplemented previous research such as the REVEAL study, 20,24 which used a randomized block experimental design, to explore effect of learning about one's own genetic susceptibility to diseases.…”

“…Addressing emotional responses, some studies indicate elevation in general or disease-specific distress in individuals after learning about their genetic susceptibility. These effects have been found for various time spans ranging from immediately after the results are given, 18 to weeks 19 and months 20 later. However, other studies found no such effects.…”

Psychiatric implications of cancer genetic testing

“…Positive BRCA1/BRCA2 results are associated with greater distress in women with breast cancer the closer they are to diagnosis. 53 Other studies have not reported any change in psychological risk with positive test results. 32,33,40,[57][58][59][60][61][62] Nonetheless, women who test positive for BRCA1/BRCA2 are also often met with resistance, shock, and other negative emotions from family members.…”

“…Changes in psychological distress after testing in both affected (with cancer) and unaffected BRCA1/BRCA2 mutation carriers reflect mixed results. Some studies have demonstrated shortterm increases in anxiety levels 42,[53][54][55][56] in the first weeks to 1 month post-testing that return to baseline 12 months after testing. Positive BRCA1/BRCA2 results are associated with greater distress in women with breast cancer the closer they are to diagnosis.…”

Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation

“…In a previous study of ours, we found that after blood sampling for genetic testing, women affected with breast or ovarian cancer reported a worse well-being and a lower preference for participation in decision-making than women without a previous history of cancer (Van Roosmalen et al, 2003). To explore a possible differential impact of the DA in women with and without a history of cancer, we examined interactions between the DA (and its timing) and history of cancer using the ANCOVA.…”