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Title: Uptake of Polygenic Risk Information among Women at Increased Risk of Breast Cancer.
Austin Authors: Yanes, Tatiane;Meiser, Bettina;Kaur, Rajneesh;Scheepers-Joynt, Maatje;McInerny, Simone;Taylor, Shelby;Barlow-Stewart, Kristine;Antill, Yoland;Salmon, Lucinda ;Smyth, Courtney;Young, Mary-Anne;James, Paul A
Affiliation: Familial Cancer Clinic, Monash Medical Centre, Melbourne, Victoria, Australia
Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, Victoria, Australia
Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
Familial Cancer Clinic, Cabrini Health, Melbourne, Victoria, Australia
Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia
School of Psychiatry, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, Australia
Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
Issue Date: Mar-2020 2019-12-25
Publication information: Clinical genetics 2020; 97(3): 492-501
Abstract: Polygenic risk scores (PRS) 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 lies between 61.8% to 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=0.011) and fewer barriers to receiving their PRS (OR= 0.80, p=0.007), had completed higher level education (OR=3.32, p=0.004), and did not have daughters (0.29, p=0.006). Uptake of breast cancer PRS varies 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. This article is protected by copyright. All rights reserved.
DOI: 10.1111/cge.13687
ORCID: 0000-0002-3905-3025
PubMed URL: 31833054
Type: Journal Article
Subjects: Breast cancer
polygenic risk
single nucleotide polymorphism
Appears in Collections:Journal articles

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