The positive impact of cancer genetic counseling on patients from an underserved region in Brazil

Abstract Introduction: Genetic counseling (GC) has become a pivotal health service to manage high-risk patients with hereditary cancer. Brazil is a continental country with an admixture population that is suggested to have a high internal genetic variation. Here we describe the impact of GC in an underdeveloped area of Brazil which offered GC for hereditary cancer for the past 10 years. Methods: Retrospective cohort study with patients seen at the CG service from 2009 to 2019. All patients have undergone genetic testing and Hospital Anxiety and Depression Scale (HADS) was applied to assess psychological symptoms after genetic testing. Associations between variables were verified using Fisher's Exact Test, and survival analysis was estimated by Kaplan–Meier. Results: The GC service has included 139 patients, where 89.3% of patients had less than 60y, 63.3% had high-school graduate only, 91% had breast cancer as a primary diagnosis and 23.7% carries a germline pathogenic variant (PV) in high-risk genes. The 5 years overall survival was 88.6%, with no significant difference between patients with germline mutation (95% CI, p= 0.138). After GC, 68.7% and 55.6% of the patients had a normal score for depression and anxiety, respectively, regardless of age at diagnosis. Moreover, the decision of undergoing risk-reducing mastectomy (RRM) was not influenced by depressive or anxious symptoms, but by age, where 44% of women aged more than 60y did not present a willingness to undergo RRM. Among patients with PV, 91.7% could understand the meaning of germline mutation and the implications to health and 58% stated that the diagnosis of PV stimulated to modification of unhealthy habits. Low education level was significantly related to a limited understanding of the impact of carrying a PV. Conclusion: These results reflect the positive impact of GC in an underserved region of Brazil and highlight the importance of communicating with patients with low education levels.