Psychological impact of receiving negative BRCA1 mutation test results in Ashkenazim

Most DNA test results for breast/ovarian cancer susceptibility are negative. Because negative test results might be interpreted incorrectly and may have serious psychological and behavioral implications, determining the psychological impact of such results is important.

A community-based sample of 289 Ashkenazim was tested for 185delAG. The 199 mutation-negatives provided data at baseline and follow-up. Increased risk participants included those who received negative test results but remained at increased risk because positive family and/or personal histories of breast or ovarian cancer made the results uninformative. Average risk meant those who tested negative and had negative family and personal histories of breast or ovarian cancer. Using a logistic regression analysis, both groups' psychological distress levels were compared at baseline and at 1 and 6 months after notification of DNA test results.

A logistic regression analysis showed significant but small differences in cancer-specific distress after 6 months between increased and average risk participants (P < 0.006). Increased risk participants reported more distress than average risk. General distress declined among all participants after 1 month. Although baseline and follow-up differences in cancer-specific distress obtained by the increased and average risk participants were statistically significant, none of the absolute levels observed reflected especially high degrees of stress.

Receipt of negative DNA test results does not have a deleterious psychological impact, whether results are informative or uninformative.