Putting it all behind: long-term psychological impact of an inconclusive DNA test result for breast cancer

Abstract

Purpose: An inconclusive DNA-result for breast cancer may leave women with uncertainty that cannot be relieved.We assessed the influence of beliefs women held about their inconclusive DNA-result on psychological well-being and whether women had been able to put the period of DNA testing behind them. Methods: In total, 215 women completed a baseline and a follow-up questionnaire 2.5 till 7 years after DNA test disclosure. Within the group of 147 women who received an inconclusive result (either a personal result or the result of an affected family member) multiple regression analyses were applied to investigate the relevance of women's personal beliefs.Results: Personal beliefs and ambivalence about an inconclusive DNA-result were associated with cancer-related worry and distress (P Ͻ 0.05). Moreover, these beliefs seemed to be an especially strong predictor of whether women had been able to leave the period of DNA testing behind them, even after controlling for all measures of psychological distress (P Ͻ 0.001). Discussion: Psychological distress measures may provide an important but incomplete picture of how women make sense of an inconclusive DNA-result. These findings underscore the importance of discussing counselees' beliefs and expectations openly to enhance well-being and adaptation on the long term. Genet Med 2008:10(10):745-750. Key Words: Genetic testing, inconclusive result, breast cancer, psychological, distressSince the identification of the BRCA1 and BRCA2 genes, many individuals have requested genetic testing for hereditary breast and ovarian cancer. From meta-analytic studies we now know that BRCA mutation testing does not, on the whole, lead to high levels of distress. 1,2 These studies were based on women from families in which a BRCA mutation had been detected previously and who were offered informative testing. However, the majority of women receive an uninformative or inconclusive result, that is, a negative result in the absence of a mutation detected previously within the family. Because of the limitations of current genetic technology genetic susceptibility cannot be ruled out, and because of the possibility of deleterious mutations in as yet unidentified genes, these women remain at increased risk of developing breast cancer on the basis of the pedigree-based risk assessment.Usually, women's DNA-samples are preserved for possible future testing using new technological advances. The inconclusiveness of the result may make it hard to regard this as a closed chapter and adapt to a somewhat uncertain risk status. In other words, it may be important to know whether women can put the period of genetic testing behind them, and whether they can cope with the ongoing uncertainty about their cancer risk and the risk for their female relatives.This may be even more applicable to unaffected women who have asked an affected relative to take the test on their behalf. It may be very unsatisfactory if this relative receives an inconclusive test result, particularly when multiple cases of cancer have bee...

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