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Uptake of polygenic risk information among women at increased risk of breast cancer
Authors:Tatiane Yanes  Bettina Meiser  Rajneesh Kaur  Maatje Scheepers-Joynt  Simone McInerny  Shelby Taylor  Kristine Barlow-Stewart  Yoland Antill  Lucinda Salmon  Courtney Smyth  Mary-Anne Young  Paul A. James
Affiliation:1. Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia;2. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, Victoria, Australia;3. Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia;4. Familial Cancer Clinic, Cabrini Health, Melbourne, Victoria, Australia;5. Clinical Genetics Service, Austin Hospital, Melbourne, Victoria, Australia;6. Familial Cancer Clinic, Monash Medical Centre, Melbourne, Victoria, Australia;7. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, Victoria, Australia

Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, Australia;8. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, Victoria, Australia

Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia

Abstract:Polygenic risk scores (PRSs) are increasingly being implemented to assess breast cancer risk. This study aimed to assess and determine factors associated with uptake of PRS among women at increased risk of breast cancer for whom genetic testing to date had been uninformative. Participants were recruited from the Variants in Practice study from which breast cancer PRS had been calculated. Four hundred women were notified by letter of the availability of their PRS and invited to complete a self-administered survey comprising several validated scales. Considering non-participants, uptake of PRS was between 61.8% and 42.1%. Multivariate logistic regression identified that women were more likely to receive their PRS if they reported greater benefits (odds ratio [OR] = 1.17, P = .011) and fewer barriers to receiving their PRS (OR = 0.80, P = .007), had completed higher level education (OR = 3.32, P = .004), and did not have daughters (0.29, P = .006). Uptake of breast cancer PRS varied according to several testing- and patient-related factors. Knowledge of these factors will facilitate the implementation of polygenic testing in clinical practice and support informed decision making by patients.
Keywords:breast cancer  polygenic risk  psychosocial  single nucleotide polymorphism  uptake
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