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Title: Communicating polygenic risk scores in the familial breast cancer clinic.
Austin Authors: Das Gupta, Kuheli;Gregory, Gillian;Meiser, Bettina;Kaur, Rajneesh;Scheepers-Joynt, Maatje;McInerny, Simone;Taylor, Shelby;Barlow-Stewart, Kristine;Antill, Yoland;Salmon, Lucinda ;Smyth, Courtney;McInerney-Leo, Aideen;Young, Mary-Anne;James, Paul A;Yanes, Tatiane
Affiliation: Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Vic, 3052, Australia
Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC 3800, Australia
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, 2010, Australia
Psychosocial Research Group, 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, Australia
Familial Cancer Clinic, Monash Medical Centre, Melbourne, VIC 3168, Australia
Clinical Genetics
Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2065, Australia
Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, VIC 3000, Australia
Familial Cancer Clinic, Cabrini Health, Melbourne, VIC 3144, Australia
Issue Date: Oct-2021
Date: 2021-03-01
Publication information: Patient Education and Counseling 2021; 104(10): 2512-2521
Abstract: To describe the communication of polygenic risk scores (PRS) in the familial breast cancer setting. Consultations between genetic healthcare providers (GHP) and female patients who received their PRS for breast cancer risk were recorded (n = 65). GHPs included genetic counselors (n = 8) and medical practitioners (n = 5) (i.e. clinical geneticists and oncologists). A content analysis was conducted and logistic regression was used to assess differences in communication behaviors between genetic counselors (n = 8) and medical practitioners (n = 5). Of the 65 patients, 31 (47.7 %) had a personal history of breast cancer, 18 of whom received an increased PRS (relative risk >1.2). 25/34 unaffected patients received an increased PRS. Consultations were primarily clinician-driven and focused on biomedical information. There was little difference between the biomedical information provided by genetic counselors and medical practitioners. However, genetic counselors were significantly more likely to utilize strategies to build patient rapport and counseling techniques. Our findings provide one of the earliest reports on how breast cancer PRSs are communicated to women. Key messages for communicating PRSs were identified, namely: discussing differences between polygenic and monogenic testing, the multifactorial nature of breast cancer risk, polygenic inheritance and current limitation of PRSs.
DOI: 10.1016/j.pec.2021.02.046
Journal: Patient Education and Counseling
PubMed URL: 33706980
Type: Journal Article
Subjects: Breast cancer
Genetic counseling
Polygenic risk
Appears in Collections:Journal articles

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