ABSTRACT
Studies suggest that patients carrying a BRCA variant of uncertain significance (VUS) may have lingering confusion concerning results interpretation. Counseling for uninformative BRCA-negative (UN) results is thought to be more straightforward, despite the fact that both results lead to similar methods of empiric cancer risk counseling. This study compared surgical choices and perceptions between 71 patients with VUS results and 714 patients with UN results. All patients underwent genetic counseling because of a personal or family history of breast or ovarian cancer between 1997 and 2010, and completed a 2-year follow-up survey. Risk-reducing mastectomy rates in both groups were 7% (p = 1.00) and risk-reducing oophorectomy rates were 5% and 3%, respectively (p = 0.42). The VUS group reported less cancer distress reduction than the UN group (23.0% vs 35.8%, respectively, p = 0.043). Over 90% of both groups found the counseling process helpful. Overall, the study suggests that VUS results disclosed in genetic counseling did not cause excessive surgery or exaggerated cancer distress, though patients with a VUS found counseling somewhat less informative or reassuring. Future research on communication of VUS results, including pre-and post-test counseling, is essential for full realization of the potential for genomic medicine.
Subject(s)
BRCA1 Protein/genetics , BRCA2 Protein/genetics , Breast Neoplasms/psychology , Genetic Variation , Ovarian Neoplasms/psychology , Stress, Psychological , Adult , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , Female , Follow-Up Studies , Genetic Counseling/psychology , Genetic Predisposition to Disease , Humans , Mastectomy/psychology , Mastectomy/statistics & numerical data , Middle Aged , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/genetics , Ovariectomy/psychology , Ovariectomy/statistics & numerical data , Risk Assessment , UncertaintyABSTRACT
BACKGROUND: Many clinicians lack adequate knowledge about emerging standards of care related to genetic cancer risk assessment and the features of hereditary cancer needed to identify patients at risk. OBJECTIVE: To determine how a clinical cancer genetics education programme for community based clinicians affected participant knowledge and changed clinical practice. METHODS: The effects of the programme on participant knowledge and changes in clinical practice were measured through pre and post session knowledge questionnaires completed by 710 participants and practice impact surveys completed after one year by 69 out of 114 eligible annual conference participants sampled. RESULTS: Respondents showed a 40% average increase in specific cancer genetics knowledge. Respondents to the post course survey reported that they used course information and materials to counsel and refer patients for hereditary cancer risk assessment (77%), shared course information with other clinicians (83%), and wanted additional cancer genetics education (80%). CONCLUSIONS: There was a significant immediate gain in cancer genetics knowledge among participants in a targeted outreach programme, and subset analysis indicated a positive long term effect on clinical practice. Clinician education that incorporates evidence based content and case based learning should lead to better identification and care of individuals with increased cancer risk.
