Trial Information

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.

This multicenter study will employ a randomized controlled trial. In an 18 month period
newly diagnosed breast cancer patients will be recruited from 13 hospitals in the Amsterdam
and Utrecht regions of the Netherlands. Eligible patients will be randomized either to the
"usual care" (UC) arm of the study, or to the RGCT arm of the study. The randomization will
be done in a ratio of 1:2

Women in the RGCT arm of the study will be referred for genetic counseling within a week
after diagnosis, prior to the primary surgery.

Women in the UC condition will receive standard advice and care from their treating
physician.

Standardized questionnaires will be administered to all patients at study entry, and at 6
and 12 months to assess all psychosocial outcomes. The endpoints will include:

1. the choice of clinical management strategy, including the uptake of direct bilateral
mastectomy (BLM) or of delayed preventive contralateral mastectomy (PCM);

2. cancer risk perception, cancer-related worry and distress;

3. knowledge of genetic aspects of breast cancer;

4. decisional satisfaction; and

5. health-related quality of life (HRQL). The study will also evaluate women's experience
of and satisfaction with RGCT (i.e., the timing and quality of the services provided,
the perceived impact on treatment decisions, perceived need for additional psychosocial
services, etc.). Data on surgical outcomes will be abstracted from the medical records.
A subset of women will be interviewed to obtain supplementary, qualitative data about
the RGCT experience.

This study will provide essential information about the impact of RGCT on the choice of
primary surgical treatment among women with breast cancer with an increased risk that their
cancer has a hereditary basis, and about the psychosocial effects of the RGCT process and
the ensuing treatment decisions. It will inform clinical geneticists, surgeons and patients
about the potential benefits and risks of RGCT, and will be useful in further shaping the
content and process of genetic counseling in the diagnostic and early treatment phase of
breast cancer.

The study will also yield recommendations for improving the quality of the multidisciplinary
care provided in breast cancer clinics by the addition of genetic expertise when patients
are at relatively high risk of having a genetic predisposition for breast cancer.