Communication Processes about Predictive Genetic Testing within High-Risk Breast Cancer Families: A Two-Phase Study Design

Abstract

Background: The detection of a pathogenic variant in the BRCA1 or BRCA2 gene has medical and psychological consequences for both, affected mutation carriers and their relatives. This study analyzed the psychological impact of genetic testing and mutation-positive test result as well as associated family communication processes from the perspective of BRCA1 or BRCA2 mutation carriers and their family members.Methods: We conducted a two-phase study with explanatory sequential mixed methods design to understand the perspective of psychological process regarding genetic testing more efficiently. First, we analyzed a survey data of 79 carriers of a BRCA1 or BRCA2 mutation. Second, we conducted focus group interviews of 10 family members to deepen understanding of communication processes in high-risk families.Results: The average age of the BRCA1 or BRCA2 mutation carriers was 48 years, 58% had a history of cancer. The majority (64.6%) had general psychological distress independent of cancer diagnosis in the patients’ history. The point prevalence of depression was 16.9%. The main motives for undergoing genetic testing were desire for safety, prevention and risk assessment for the own children. The mutation carriers were satisfied with the decision to undergo genetic testing. Contrary to their subjective perception, the respondents' knowledge about those mutations was moderate. The familial communication was merely partially successful. In contrast to the high rate of disclosure to at-risk relatives (100%), the reported uptake of genetic testing among informed at-risk relatives was low (45.6%). In-depth focus group interviews with 10 family members revealed significant barriers to accessing genetic counseling including anxiety, uncertainty about the benefits of testing and the own cancer risk, particulary among males.Conclusion: The detection of a BRCA1 or BRCA2 mutation has psychological impact not only on mutation carriers but also on their family members. An adequate knowledge of the genetic background is required to reduce the level of psychological distress and to support the familial communication process. Therefore, the quality of information sources for affected individuals and relatives and also the awareness of health care professionals have to be improved.

Barriers, interventions, and recommendations: Improving the genetic testing landscape

“…Individual-level barriers include the perceived cost of genetic testing, knowledge and beliefs about the genetic testing process, fear related to being at an increased risk for cancer, fear of genetic discrimination, and distrust in the medical system (16)(17)(18). Additionally, patients may have confusion over different testing options (such as lab tests vs. direct-to-consumer genetic testing) (19).…”

“…Additionally, patients may have confusion over different testing options (such as lab tests vs. direct-to-consumer genetic testing) ( 19 ). These challenges make it difficult for patients to ascertain definitive answers related to medical genetic testing, leading to reduced genetic testing uptake ( 17 , 18 ).…”