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 outs...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-07-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/12/7/1112 |
| _version_ | 1797433373779558400 |
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| author | Laura E. Forrest Rowan Forbes Shepherd Erin Tutty Angela Pearce Ian Campbell Lisa Devereux Alison H. Trainer Paul A. James Mary-Anne Young |
| author_facet | Laura E. Forrest Rowan Forbes Shepherd Erin Tutty Angela Pearce Ian Campbell Lisa Devereux Alison H. Trainer Paul A. James Mary-Anne Young |
| author_sort | Laura E. Forrest |
| collection | DOAJ |
| description | 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 (<i>p</i> = 0.03). Group 1 reported significantly higher breast cancer risk perception (<i>p</i> < 0.001) compared to group 2, and higher cancer worry than group 2 (<i>p</i> < 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. |
| first_indexed | 2024-03-09T10:16:07Z |
| format | Article |
| id | doaj.art-20942c026cb441f39faa069c8d6837fc |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-09T10:16:07Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-20942c026cb441f39faa069c8d6837fc2023-12-01T22:20:42ZengMDPI AGJournal of Personalized Medicine2075-44262022-07-01127111210.3390/jpm12071112The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative StudyLaura E. Forrest0Rowan Forbes Shepherd1Erin Tutty2Angela Pearce3Ian Campbell4Lisa Devereux5Alison H. Trainer6Paul A. James7Mary-Anne Young8Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, AustraliaParkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, AustraliaParkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, AustraliaKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, AustraliaSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC 3010, AustraliaSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, VIC 3010, AustraliaParkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, AustraliaParkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC 3000, AustraliaKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, AustraliaBackground 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 (<i>p</i> = 0.03). Group 1 reported significantly higher breast cancer risk perception (<i>p</i> < 0.001) compared to group 2, and higher cancer worry than group 2 (<i>p</i> < 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.https://www.mdpi.com/2075-4426/12/7/1112returning research resultsclinically actionable genetic informationmixed-methodspsychosocial outcomesclinical outcomes |
| spellingShingle | Laura E. Forrest Rowan Forbes Shepherd Erin Tutty Angela Pearce Ian Campbell Lisa Devereux Alison H. Trainer Paul A. James Mary-Anne Young The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study Journal of Personalized Medicine returning research results clinically actionable genetic information mixed-methods psychosocial outcomes clinical outcomes |
| title | The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study |
| title_full | The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study |
| title_fullStr | The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study |
| title_full_unstemmed | The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study |
| title_short | The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study |
| title_sort | clinical and psychosocial outcomes for women who received unexpected clinically actionable germline information identified through research an exploratory sequential mixed methods comparative study |
| topic | returning research results clinically actionable genetic information mixed-methods psychosocial outcomes clinical outcomes |
| url | https://www.mdpi.com/2075-4426/12/7/1112 |
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