Unselected Population Genetic Testing for Personalised Ovarian Cancer Risk Prediction: A Qualitative Study Using Semi-Structured Interviews
Faiza Gaba,
Samuel Oxley,
Xinting Liu,
Xin Yang,
Dhivya Chandrasekaran,
Jatinderpal Kalsi,
Antonis Antoniou,
Lucy Side,
Saskia Sanderson,
Jo Waller,
Munaza Ahmed,
Andrew Wallace,
Yvonne Wallis,
Usha Menon,
Ian Jacobs,
Rosa Legood,
Dalya Marks,
Ranjit Manchanda
Affiliations
Faiza Gaba
Wolfson Institute of Population Health, Barts CRUK Centre, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK
Samuel Oxley
Wolfson Institute of Population Health, Barts CRUK Centre, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK
Xinting Liu
Wolfson Institute of Population Health, Barts CRUK Centre, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK
Xin Yang
Strangeways Research Laboratory, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, The University of Cambridge, Cambridge CB1 8RN, UK
Dhivya Chandrasekaran
Wolfson Institute of Population Health, Barts CRUK Centre, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK
Jatinderpal Kalsi
Department of Women’s Cancer, University College London, Gower St, Bloomsbury, London WC1E 6BT, UK
Antonis Antoniou
Strangeways Research Laboratory, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, The University of Cambridge, Cambridge CB1 8RN, UK
Lucy Side
Department of Clinical Genetics, University Hospital Southampton NHS Foundation Trust, Tremona Rd, Southampton SO16 6YD, UK
Saskia Sanderson
Early Disease Detection Research Project UK (EDDRP UK), 2 Redman Place, London E20 1JQ, UK
Jo Waller
Cancer Prevention Group, King’s College London, Great Maze Pond, London SE1 9RT, UK
Munaza Ahmed
North East Thames Regional Genetics Unit, Department Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK
Andrew Wallace
Manchester Centre for Genomic Medicine, 6th Floor Saint Marys Hospital, Oxford Rd, Manchester M13 9WL, UK
Yvonne Wallis
West Midlands Regional Genetics Laboratory, Birmingham Women’s NHS Foundation Trust, Birmingham B15 2TG, UK
Usha Menon
Medical Research Council Clinical Trials Unit at UCL, Institute of Clinical Trials and Methodology, University College London, 90 High Holborn, London WC1V 6LJ, UK
Ian Jacobs
Department of Women’s Health, University of New South Wales, Sydney 2052, Australia
Rosa Legood
Faculty of Public Health and Policy, London School of Hygiene & Tropical Medicine, 15-17 Tavistock Place, London WC1H 9SH, UK
Dalya Marks
Faculty of Public Health and Policy, London School of Hygiene & Tropical Medicine, 15-17 Tavistock Place, London WC1H 9SH, UK
Ranjit Manchanda
Wolfson Institute of Population Health, Barts CRUK Centre, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK
Unselected population-based personalised ovarian cancer (OC) risk assessments combining genetic, epidemiological and hormonal data have not previously been undertaken. We aimed to understand the attitudes, experiences and impact on the emotional well-being of women from the general population who underwent unselected population genetic testing (PGT) for personalised OC risk prediction and who received low-risk (<5% lifetime risk) results. This qualitative study was set within recruitment to a pilot PGT study using an OC risk tool and telephone helpline. OC-unaffected women ≥ 18 years and with no prior OC gene testing were ascertained through primary care in London. In-depth, semi-structured and 1:1 interviews were conducted until informational saturation was reached following nine interviews. Six interconnected themes emerged: health beliefs; decision making; factors influencing acceptability; effect on well-being; results communication; satisfaction. Satisfaction with testing was high and none expressed regret. All felt the telephone helpline was helpful and should remain optional. Delivery of low-risk results reduced anxiety. However, care must be taken to emphasise that low risk does not equal no risk. The main facilitators were ease of testing, learning about children’s risk and a desire to prevent disease. Barriers included change in family dynamics, insurance, stigmatisation and personality traits associated with stress/worry. PGT for personalised OC risk prediction in women in the general population had high acceptability/satisfaction and reduced anxiety in low-risk individuals. Facilitators/barriers observed were similar to those reported with genetic testing from high-risk cancer clinics and unselected PGT in the Jewish population.
