Behavioral and Psychosocial Effects of Rapid Genetic Counseling and Testing in Newly Diagnosed Breast Cancer Patients: a Multicenter Study

In the Netherlands, approximately 12,000 women are diagnosed with breast cancer annually, of whom about 5-10% carry a mutation in the BRCA1 or BRCA2 gene. Genetic counseling and DNA testing are usually offered to selected patients after primary treatment has been completed (e.g. the first year after diagnosis). For women with a mutation in one of the two breast-ovarian cancer syndrome genes, chances of a second breast cancer are high, and therefore a proportion of these women may opt for preventive measures in addition to their immediate breast cancer treatment. Contralateral prophylactic mastectomy significantly reduces this risk, and is associated with a reduction in mortality. Genetic counseling and testing for breast cancer typically takes approximately 4-6 months to complete.

However, some hospitals and laboratories are now able to generate test results within 3 to 6 weeks. This technology of rapid genetic testing creates new opportunities for providing both women and their treating surgeons with information potentially relevant for deciding between available treatment options, including type of surgery and adjuvant therapy.

The study will focus on newly diagnosed breast cancer patients who, prior to receiving treatment, are identified as having at least a 10% risk of carrying a mutation in the BRCA1 or BRCA2 genes.

We will investigate whether women with a recent diagnosis of breast cancer make use of rapid genetic counseling when offered.

Furthermore, we will investigate whether the process of genetic counseling (and subsequent DNA testing) has influence on the choice of treatment, and whether and how such rapid genetic counseling and testing (RGCT) affects levels of risk perception, cancer-related worries and distress, and decisional satisfaction.