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


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.

Type Journal
ISBN 2075-4426 (Print) 2075-4426 (Linking)
Authors Forrest, L. E.; Forbes Shepherd, R.; Tutty, E.; Pearce, A.; Campbell, I.; Devereux, L.; Trainer, A. H.; James, P. A.; Young, M. A.
Publisher Name Journal of Personalized Medicine
Published Date 2022-07-07
Published Volume 12
Published Issue 7
Status Published in-print
DOI 10.3390/jpm12071112
URL link to publisher's version