Individual and family characteristics associated with BRCA1/2 genetic testing in high‐risk families

Abstract

Findings suggest that both individual and family characteristics are associated with the decision to obtain genetic testing for hereditary breast cancer; hence, there is a need for interventions that foster a supportive family environment for patients and their high-risk relatives.

Predictors and interdependence of family support in a random sample of long‐term young breast cancer survivors and their biological relatives

“…The study was guided by the integration of the theory of stress and coping with the theory of family systems in genetic illness applied to families with hereditary breast cancer risk . Stress occurs when primary appraisals of a health problem threaten one's well‐being .…”

Development of a Web-based Family Intervention for BRCA Carriers and Their Biological Relatives: Acceptability, Feasibility, and Usability Study (Preprint)

“…Although we have successfully used the same recruitment method (patient recruiting relative) in our prior studies targeting women completing genetic testing and young breast cancer survivors [11,15,80], the usability and feasibility study indicated that recruitment of mutation carriers and relatives for a family-based intervention requires personal contact and follow-up phone calls. The pre-post pilot study indicated that personal contact with mutation carriers is necessary first, to assess their eligibility to participate in the Family Gene Toolkit© (i.e., confirmed BRCA mutation, not all relatives have been tested) and second, to prepare them how to broach family participation in an intervention study with their relative, and help minimize relative refusal rate.…”

“…(Figure 1). findings from a descriptive study with 168 at-risk families [11,62]; a meta-analysis of interventions targeting cancer patients and their family caregivers [63]; feedback from a psychologist, expert in decision-making for genetic testing, not involved in the development in the intervention; and feedback from two BRCA families (two female carriers and two female relatives). The intervention prototype targets family dyads consisting of a female mutation carrier and a female close biological relative.…”

“…For example, perceived lack of family support regarding genetic testing may increase stress after a pathogenic variant has been identified, while self-efficacy in managing cancer risks may reduce stress. The theoretical framework guiding the study has been developed and evaluated with 168 families pursuing testing for hereditary breast and ovarian cancer ( [11]. (Figure 1).…”

“…Barriers to family communication include lack of understanding of genetic information, often hampering the ability of the family to cope with health threats associated with the pathogenic mutation [11]. Lack of communication skills and non-helpful coping (e.g., avoidance) inhibit disclosure of test results to relatives [12][13][14].…”