Communicating polygenic risk scores in the familial breast cancer clinic

Kuheli Das Gupta; Gillian Gregory; Bettina Meiser; Rajneesh Kaur; Maatje Scheepers-Joynt; Simone McInerny; Shelby Taylor; Kristine Barlow-Stewart; Yoland Antill; Lucinda Salmon; Courtney Smyth; Aideen McInerney-Leo; Mary-Anne Young; Paul A James; Tatiane Yanes

doi:10.1016/j.pec.2021.02.046

Communicating polygenic risk scores in the familial breast cancer clinic

Patient Educ Couns. 2021 Oct;104(10):2512-2521. doi: 10.1016/j.pec.2021.02.046. Epub 2021 Mar 1.

Authors

Affiliations

¹ Psychosocial Research Group, Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia.
² Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, VIC 3000, Australia.
³ Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2065, Australia.
⁴ Familial Cancer Clinic, Cabrini Health, Melbourne, VIC 3144, Australia; Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, VIC 3800, Australia.
⁵ Clinical Genetics Service, Austin Hospital, Melbourne, VIC 3084, Australia.
⁶ Familial Cancer Clinic, Monash Medical Centre, Melbourne, VIC 3168, Australia.
⁷ The University of Queensland Diamantina Institute, Dermatology Research Centre, The University of Queensland, Brisbane, QLD, Australia.
⁸ Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and the Royal Melbourne Hospital, Melbourne, VIC 3000, Australia; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, 2010, Australia.
⁹ 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.
¹⁰ 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. Electronic address: [email protected].

PMID: 33706980
DOI: 10.1016/j.pec.2021.02.046

Abstract

Objective: To describe the communication of polygenic risk scores (PRS) in the familial breast cancer setting.

Methods: 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).

Results: 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.

Conclusions: Our findings provide one of the earliest reports on how breast cancer PRSs are communicated to women.

Practice implications: 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.

Keywords: Breast cancer; Communication; Genetic counseling; Polygenic risk.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Breast Neoplasms* / genetics
Female
Genetic Predisposition to Disease
Humans
Logistic Models
Multifactorial Inheritance
Risk Factors