Open AccessProtocol
Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial
by
1,2,*,†
, 3,†
, 4, 5, 5, 3, 1
, 3, 5
, 6, 5,7, 8
, 5,9
, 4,10
and 3
1
Primary Care Unit, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge CB1 8RN, UK
2
Department of Psychology, University of Cambridge, Downing Street, Cambridge CB2 3EB, UK
3
Academic Department of Medical Genetics, University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK
4
Manchester Centre for Genomic Medicine, St. Marys Hospital, Oxford Road, Manchester M13 9WL, UK
5
Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA
6
Cambridge Genomics Laboratory, Cambridge University Hospitals Foundation Trust, Hills Road, Cambridge CB2 0QQ, UK
7
Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
8
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory, University of Cambridge, Cambridge CB1 8RN, UK
9
Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA 94305, USA
10
Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PL, UK
*
Author to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Academic Editor: Mineko Terao
Received: 1 April 2022
/
Revised: 27 May 2022
/
Accepted: 28 May 2022
/
Published: 31 May 2022
Simple Summary
Women with disease-causing gene changes (faults/mutations) in BRCA1, BRCA2, PALB2, CHEK2 and ATM are at an increased risk of developing certain types of cancer—specifically breast (all genes) and epithelial ovarian cancer (only BRCA1, BRCA2, PALB2). At present, the risk estimates given to women by most healthcare professionals are broad (e.g., 35–85% lifetime risk of breast cancer for BRCA1 and BRCA2) and are not personalised. This can make it difficult for women to make informed decisions regarding the risk-management options available to them. By combining information about genetic, lifestyle and hormonal risk factors, we can produce a narrower, more personalised risk estimate (e.g., 44% lifetime risk of breast cancer). In this study, we aim to test whether offering personalised risk estimates to women undergoing predictive testing in genetics centres in the UK and USA better supports women’s mental health and choices about their clinical care, relative to standard care. In addition, we will explore the experiences of both staff and women taking part in the study, to understand whether personalised risk estimates are acceptable, feasible and cost-effective for use in clinical care.