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Title: Women's responses and understanding of polygenic breast cancer risk information.
Austin Authors: Yanes, T;Kaur, R;Meiser, B;Scheepers-Joynt, M;McInerny, S;Barlow-Stewart, K;Antill, Y;Salmon, Lucinda ;Smyth, C;James, P A;Young, M A
Affiliation: Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2065, Australia
Family Cancer Clinic, Monash Medical Centre, Melbourne, VIC, 3168, Australia
Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
Family Cancer Clinic, Cabrini Health, Melbourne, VIC, 3144, Australia
Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia
The University of Queensland Diamantina Institute, Dermatology Research Centre, The University of Queensland, Brisbane, QLD, 4102, Australia
Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, VIC, 3000, Australia
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, 3052, Australia
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia
Issue Date: Oct-2020
Date: 2020-05-20
Publication information: Familial cancer 2020; 19(4): 297-306
Abstract: It is estimated that polygenic factors can explain up to 18% of familial breast cancer. Clinical implementation of polygenic testing has begun, with several commercial laboratories now testing. Despite commercial implementation, there is little research investigating how women respond and understand polygenic risk information. This study aimed to explore women's experience receiving their personalised polygenic risk score (PRS) and compare responses of women at different levels of polygenic risk. Eligible participants were affected and unaffected women from families clinically assessed to be at high risk for breast cancer who had received their personalised PRS as part of the Variants in Practice Psychosocial Study (ViPPs). In-depth semi-structured interviews were conducted with 21 women (mean age 53.4¬†years) up to four weeks after receiving their PRS. Interviews were transcribed verbatim and analysed using thematic analysis. Eleven women received a PRS that was in the top quartile of PRS distribution and 10 in the lowest quartile. Women's lived experience with breast cancer informed how they responded to their PRS, constructed and made sense of breast cancer risk following receipt of their PRS, and integrated this new information into their breast cancer risk management. Regardless of polygenic risk level, all participants demonstrated broad knowledge of concepts related to polygenic information and were able to accurately describe the implications of their PRS. Receiving PRS did not appear to negatively impact women's reported distress levels. Our findings suggest polygenic breast cancer information is well received and understood by women at high-risk for breast cancer.
DOI: 10.1007/s10689-020-00185-2
ORCID: 0000-0002-3905-3025
Journal: Familial cancer
PubMed URL: 32430685
Type: Journal Article
Subjects: Breast cancer
Polygenic risk scores
Psychosocial research
Qualitative research
Appears in Collections:Journal articles

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