The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study

Abstract

Background Research identifying and returning clinically actionable germline variants offer a new avenue of access to genetic information. The psychosocial and clinical outcomes for women who have received this ‘genome-first care’ delivering hereditary breast and ovarian cancer risk information outside of clinical genetics services are unknown. Methods: An exploratory sequential mixed-methods case-control study compared outcomes between women who did (cases; group 1) and did not (controls; group 2) receive clinically actionable genetic information from a research cohort in Victoria, Australia. Participants completed an online survey examining cancer risk perception and worry, and group 1 also completed distress and adaptation measures. Group 1 participants subsequently completed a semi structured interview. Results: Forty-five participants (group 1) and 96 (group 2) completed the online survey, and 31 group 1 participants were interviewed. There were no demographic differences between groups 1 and 2, although more of group 1 participants had children (p = 0.03). Group 1 reported significantly higher breast cancer risk perception (p < 0.001) compared to group 2, and higher cancer worry than group 2 (p < 0.001). Some group 1 participants described how receiving their genetic information heightened their cancer risk perception and exacerbated their cancer worry while waiting for risk-reducing surgery. Group 1 participants reported a MICRA mean score of 27.4 (SD 11.8, range 9–56; possible range 0–95), and an adaptation score of 2.9 (SD = 1.1). Conclusion: There were no adverse psychological outcomes amongst women who received clinically actionable germline information through a model of ‘genome-first’ care compared to those who did not. These findings support the return of clinically actionable research results to research participants.

Special Issue: “Genetic Counseling and Genetic Testing in Precision Medicine”

“…However, new approaches to accessing genetic counseling and genetic testing are being investigated. One such approach involves offering research participants actionable secondary findings through their participation in a genomic research study [ 5 ]. This means that individuals taking part in the study can receive information about additional genetic risks beyond the specific focus of the research, broadening the scope of genetic information that can be provided to participants.…”

“…The importance of assessing patient-reported outcomes of genetics and genomics in a range of contexts is increasingly being recognized. Three articles in this Special Issue contribute to these efforts [ 4 , 5 , 10 ]. The contexts in the Special Issue that include patient-reported outcomes are (1) when participants are receiving unexpected (secondary) findings from genomic research, (2) when individuals are undergoing reproductive genetic carrier screening, and (3) for parents who receive their children’s results in an undiagnosed disease program.…”