Psychological and emotional impacts of communicating breast cancer risk using multifactorial assessment with polygenic risk score: Findings from PERSPECTIVE I&I

Laurence Lambert-Côté; Annie Turgeon; Kristina M Blackmore; Amy Chang; Antonis C Antoniou; Kathleen A Bell; Mireille J M Broeders; Jennifer D Brooks; Tim Carver; Sue-Ling Chang; Jocelyne Chiquette; Éric Demers; Douglas F Easton; Andrea Eisen; Laurence Eloy; D Gareth R Evans; Samantha Fienberg; Yann Joly; Raymond H Kim; Bartha M Knoppers; Corinne Labeau-Caouette; Johanne Lessard; Aisha Lofters; Hermann Nabi; Jean-Sébastien Paquette; Nora Pashayan; Amanda J Sheppard; Tracy L Stockley; Meghan J Walker; Anna M Chiarelli; Jacques Simard; Michel Dorval

doi:10.1016/j.gim.2025.101453

Psychological and emotional impacts of communicating breast cancer risk using multifactorial assessment with polygenic risk score: Findings from PERSPECTIVE I&I

Genet Med. 2025 May 10;27(8):101453. doi: 10.1016/j.gim.2025.101453. Online ahead of print.

Authors

Laurence Lambert-Côté¹, Annie Turgeon¹, Kristina M Blackmore², Amy Chang², Antonis C Antoniou³, Kathleen A Bell², Mireille J M Broeders⁴, Jennifer D Brooks⁵, Tim Carver³, Sue-Ling Chang¹, Jocelyne Chiquette⁶, Éric Demers¹, Douglas F Easton³, Andrea Eisen⁷, Laurence Eloy⁸, D Gareth R Evans⁹, Samantha Fienberg², Yann Joly¹⁰, Raymond H Kim¹¹, Bartha M Knoppers¹⁰, Corinne Labeau-Caouette¹, Johanne Lessard¹², Aisha Lofters¹³, Hermann Nabi¹⁴, Jean-Sébastien Paquette¹⁵, Nora Pashayan³, Amanda J Sheppard¹⁶, Tracy L Stockley¹⁷, Meghan J Walker¹⁶, Anna M Chiarelli¹⁶, Jacques Simard¹⁸, Michel Dorval¹⁹

Affiliations

¹ CHU de Québec-Université Laval Research Center, Quebec City, QC, Canada.
² Ontario Health, Toronto, ON, Canada.
³ Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
⁴ IQ Health Science Department, Radboud university medical center, Nijmegen, The Netherlands.
⁵ Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
⁶ CHU de Québec-Université Laval Research Center, Quebec City, QC, Canada; Centre des maladies du sein, CHU de Québec-Université laval, Quebec City, QC, Canada; Department of Family Medicine and Emergency Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.
⁷ Ontario Health, Toronto, ON, Canada; Sunnybrook Health Science Centre, Toronto, ON, Canada.
⁸ Programme québécois de cancérologie, Ministère de la Santé et des Services sociaux, Quebec City, QC, Canada; Centre intégré de santé et de services sociaux de Lanaudière, Joliette, QC, Canada.
⁹ Department of Medical Genetics and Cancer Epidemiology, The University of Manchester, Manchester, United Kingdom.
¹⁰ Centre of Genomics and Policy, McGill University, Montreal, QC, Canada.
¹¹ Ontario Health, Toronto, ON, Canada; Princess Margaret Cancer Centre, Toronto, ON, Canada.
¹² Centre intégré de santé et de services sociaux de Lanaudière, Joliette, QC, Canada.
¹³ Canada Women's College Research Institute, Toronto, ON, Canada.
¹⁴ CHU de Québec-Université Laval Research Center, Quebec City, QC, Canada; Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada; Université Laval Cancer Research Center, Quebec City, QC, Canada.
¹⁵ Department of Family Medicine and Emergency Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.
¹⁶ Ontario Health, Toronto, ON, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
¹⁷ Princess Margaret Cancer Centre, Toronto, ON, Canada; Division of Clinical Laboratory Genetics, University Health Network, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
¹⁸ CHU de Québec-Université Laval Research Center, Quebec City, QC, Canada; Department of Molecular Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada.
¹⁹ CHU de Québec-Université Laval Research Center, Quebec City, QC, Canada; Université Laval Cancer Research Center, Quebec City, QC, Canada; Faculty of Pharmacy, Université Laval, Quebec City, QC, Canada. Electronic address: michel.dorval@crchudequebec.ulaval.ca.

PMID: 40365755
DOI: 10.1016/j.gim.2025.101453

Abstract

Purpose: To examine the psychological and emotional outcomes of personalized breast cancer risk communication up to 1 year after disclosure in a risk-stratified breast screening preimplementation study (Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation).

Methods: Among 3753 females aged 40 to 69, unaffected by breast cancer, with a prior mammogram, and who underwent multifactorial risk assessment to estimate their 10-year breast cancer risk, 2734 completed follow-up questionnaires up to 1 year after risk communication: 78.5% were at average risk, 16.5% at higher than average risk, and 5.0% at high risk. The impact of risk communication on breast cancer worry and psychological distress and factors associated with decisional regret were examined.

Results: Breast cancer worry and psychological distress scores remained low after risk communication and at 1 year follow-up. Up to 1 year after disclosure, small significant differences in breast cancer worry were observed between risk levels. Decisional regret was very low 1 year after risk communication. Lower levels of decisional regret were significantly associated with some factors, including higher satisfaction with the information received.

Conclusion: This study suggests that personalized breast cancer risk communication has low negative psychological and emotional effects and highlights the importance of the information received for implementing this approach at population level.

Keywords: Breast cancer screening; Polygenic risk score; Psychosocial issues; Risk communication; Risk stratification.