Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial

Abstract

Original research article IntroductIonFemale breast cancer patients who carry a BRCA1 or BRCA2 gene mutation have an increased risk of 20-55% for developing a second primary breast cancer 1 and are at increased risk for ovarian cancer. The risk of contralateral breast cancer is highest for carriers who were diagnosed with their first breast cancer at a young age. 1 Between 18 and 29% of carriers with a favorable prognosis opt for immediate or, more often, delayed contralateral prophylactic mastectomy (CPM) to reduce their risk of a second breast cancer. [2][3][4] Several studies have shown that a CPM leads to a large reduction (up to 95%) in the risk of contralateral breast cancer, with increasing evidence of improved breast cancer-specific survival. 5,6 Advances in the technology and logistics of genetic testing of the BRCA1 and BRCA2 genes have made it possible to offer high-risk breast cancer patients the opportunity to undergo rapid genetic counseling and testing (RGCT) during the time period between diagnosis and primary surgery. Women who Purpose: Female breast cancer patients carrying a BRCA1/2 mutation have an increased risk of second primary breast cancer. Rapid genetic counseling and testing (RGCT) before surgery may influence choice of primary surgical treatment. In this article, we report on the psychosocial impact of RGCT. Methods:Newly diagnosed breast cancer patients at risk for carrying a BRCA1/2 mutation were randomized to an intervention group (offer of RGCT) or a usual care control group (ratio 2:1). Psychosocial impact and quality of life were assessed with the Impact of Events Scale, Hospital Anxiety and Depression Scale, Cancer Worry Scale, and the EORTC QLQ-C30 and QLQ-BR23. Assessments took place at study entry and at 6-and 12-month follow-up visits.results: Between 2008 and 2010, 265 patients were recruited into the study. Completeness of follow-up data was more than 90%. Of the 178 women in the intervention group, 177 had genetic counseling, of whom 71 (40%) had rapid DNA testing and 59 (33%) received test results before surgery. Intention-to-treat and per-protocol analyses showed no statistically significant differences between groups over time in any of the psychosocial outcomes. conclusions:In this study, RGCT in newly diagnosed breast cancer patients did not have any measurable adverse psychosocial effects.

Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis

“…This is an important additional factor to consider when recommending preoperative genetic testing. Studies are conflicting in terms of psychological distress associated with rapid genetic testing and counseling at the time of diagnosis of breast cancer, with some studies suggesting possible increased distress [28] while others suggesting no change [29, 30]. …”

Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients’ and health professionals’ attitudes, experiences, and evaluation of effects on treatment decision making

“…Details of the RCT are available elsewhere . Briefly, between November 2008 and December 2010, newly diagnosed BC patients were recruited from 12 hospitals in the Netherlands by their surgeons or specialized nurses.…”

“…Patients within the RGCT group who actually received their DNA test results before primary surgery had a direct bilateral mastectomy significantly more often than patients who received usual care (22% vs 9.2%, P = 0.03) . RGCT did not have any measurable adverse psychosocial effects …”

Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer

“…The impact of counselling processes and genetic testing can have clinical consequences (indicating the need for appropriate medical management), psychological consequences (providing potential answers to distress), and social consequences (informing the way to communicate risk to one's family) (Smerecnik et al 2009;Trepanier et al 2004;Contegiacomo et al 2004;Wevers et al 2015). Risk perception, anxiety and distress levels act as key factors in the patient^s decision process throughout counselling and in decisions about preventive surgery (Cabrera et al 2010;Rantala et al 2009;Tong et al 2015).…”