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Clinical Characteristics Affect the Impact of an Uninformative DNA Test Result: The Course of Worry and Distress Experienced by Women Who Apply for Genetic Testing for Breast Cancer

Sandra van Dijk, Daniëlle R.M. Timmermans, Hanne Meijers-Heijboer, Aad Tibben, Christi J. van Asperen, Wilma Otten

From the Department of Medical Decision-making, and Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden; Department of Social Medicine, Free University, Amsterdam; and the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands

Address reprint requests to Sandra van Dijk, MSc, Department of Medical Decision-making, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands; e-mail: dijk{at}lumc.nl

PURPOSE: DNA mutation testing for breast cancer usually yields an uninformative result, which is a negative result in the absence of a known BRCA mutation within the family. However, few data are available on the psychological impact of this result. Moreover, the clinical heterogeneity within this group has not yet been considered. This study provides prospective data about the course of cancer-specific worry and distress for different groups of test applicants.

PATIENTS AND METHODS: All DNA test applicants (n = 238) completed three questionnaires: before and 1 and 7 months after disclosure of a DNA mutation test. With repeated-measures analysis of variance, differences were assessed between BRCA1/2-positive women (n = 42), BRCA1/2–true-negative women (n = 43), and women with an uninformative test result (n = 153).

RESULTS: On the group level, women with an uninformative result seemed to be reassured after disclosure (P < .001), but to a lesser extent than those women who received a true-negative result. However, not all women with an uninformative result reacted similarly: higher levels of worry and distress could be explained by relatively straightforward clinical variables, namely a personal history of cancer (P .001) and a higher pedigree-based risk (P .005). Furthermore, these clinical variables determined whether these women were either comparable to women who received a true-negative result or to BRCA mutation carriers.

CONCLUSION: Women with an uninformative result form a heterogeneous group of test applicants. The subpopulation of those with both a personal history of cancer and a relatively high pedigree-based risk expressed the highest levels of worry 7 months after DNA testing.

Supported by the Dutch Cancer Society Grant No. UL 98-1740.

Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.

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