Please use this identifier to cite or link to this item:
Title: Polygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk.
Austin Authors: Gregory, Gillian;Das Gupta, Kuheli;Meiser, Bettina;Barlow-Stewart, Kristine;Geelan-Small, Peter;Kaur, Rajneesh;Scheepers-Joynt, Maatje;McInerny, Simone;Taylor, Shelby;Antill, Yoland;Salmon, Lucinda ;Smyth, Courtney;Young, Mary-Anne;James, Paul A;Yanes, Tatiane
Affiliation: Dermatology Research Centre, Diamantina Institute, University of Queensland, Brisbane, QLD, Australia
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, NSW, Australia
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia
Psychosocial Research Group, Prince of Wales Clinical School, University of New South Wales, Sydney, NSW, Australia
Faculty of Medicine and Health, Northern Clinical School, University of Sydney, Sydney, NSW, Australia
Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Royal Melbourne Hospital, Melbourne VIC, Australia
Familial Cancer Clinic, Cabrini Health, Melbourne, VIC, Australia
Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC, Australia
Clinical Genetics
Familial Cancer Clinic, Monash Medical Centre, Melbourne, VIC, Australia
Issue Date: 2022
Date: 2021-07-05
Publication information: Journal of genetic counseling 2022; 31(1): 120-129
Abstract: Hereditary breast cancer is associated with known genetic changes: either variants that affect function in a few rare genes or an ever-increasing number of common genomic risk variants, which combine to produce a cumulative effect, known as a polygenic risk (PR) score. While the clinical validity and utility of PR scores are still being determined, the communication of PR is a new challenge for genetic health professionals. This study investigated how PR scores are discussed in the familial cancer clinic compared with a previous study assessing the communication of monogenic risk (MR) for breast cancer. Sixty-five PR consultations between genetic health professionals and women at familial risk of breast cancer were audiotaped, transcribed, and coded using a methodology adapted from the MR study. Analysis of consultations shows that while there were similarities in communicating MR and PR, the complexity and novelty of the polygenic information influenced the style of counseling used by genetic health professionals toward a teaching model of genetic counseling, rather than a patient-centered approach. In particular, compared to MR consultations, in PR consultations significantly fewer counselees (a) were asked about their reasons for attending genetic counseling; or (b) had their information preferences, decision-making style, medical knowledge, understanding, or concerns checked. In conclusion, it is anticipated that PR scores will become part of standard clinical practice. Thus, it will be important for all genetic health professionals to be appropriately educated so that they can tailor their communication to meet patient needs.
DOI: 10.1002/jgc4.1458
Journal: Journal of Genetic Counseling
PubMed URL: 34223688
Type: Journal Article
Subjects: communication
family history
genetic counseling
genetic testing
polygenic risk scores
Appears in Collections:Journal articles

Show full item record

Page view(s)

checked on Jul 15, 2024

Google ScholarTM


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.