‘A sword of Damocles’: patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study
Angela Ju,
Allison Tong,
Armando Teixeira-Pinto,
David Johnson,
Jonathan Craig,
Martin Howell,
Ron T Gansevoort,
Talia Gutman,
Karine E Manera,
Peter Kerr,
Gopala K Rangan,
Curie Ahn,
Tess Harris,
Charlotte Logeman,
Yeoungjee Cho,
Benedicte Sautenet,
Albert Ong,
Arlene Chapman,
Helen Coolican,
Juliana Tze-Wah Kao,
Ronald Perrone,
Vincent Torres,
Kevin Fowler,
York Pei,
Jessica Ryan,
Andrea Viecelli,
Clair Geneste,
Hyunsuk Kim,
Yaerim Kim,
Gayathri Parasivam
Affiliations
Angela Ju
Centre for Kidney Research, Westmead Hospital, Westmead, New South Wales, Australia
Allison Tong
Sydney School of Public Health, The University of Sydney, Sydney, New South Wales, Australia
Armando Teixeira-Pinto
Centre for Kidney Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia
David Johnson
Department of Renal Medicine, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia
Jonathan Craig
College of Medicine and Public Health, Flinders University, Adelaide, South Australia, Australia
Martin Howell
Centre for Kidney Research, The Children`s Hospital at Westmead, Westmead, New South Wales, Australia
Ron T Gansevoort
Department of Nephrology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
Talia Gutman
Sydney School of Public Health, The University of Sydney, Sydney, New South Wales, Australia
Karine E Manera
School of Public Health, The University of Sydney, Sydney, New South Wales, Australia
Peter Kerr
Nephrology, Monash Medical Centre Clayton, Melbourne, Victoria, Australia
Gopala K Rangan
Michael Stern Laboratory for Polycystic Kidney Disease, Westmead Institute for Medical Research, Westmead, New South Wales, Australia
Curie Ahn
Internal Medicine, Seoul National University, Seoul, South Korea
Tess Harris
Population Health Research Institute, St Georges, University of London, London, UK
Charlotte Logeman
School of Public Health, The University of Sydney, Sydney, New South Wales, Australia
Yeoungjee Cho
Department of Nephrology, Princess Alexandra Hospital, Brisbane, Queensland, Australia
Benedicte Sautenet
Department of Nephrology Hypertension, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Albert Ong
Academic Nephrology Unit, The Henry Wellcome Laboratories for Medical Research, University of Sheffield Medical School, Sheffield, UK
Arlene Chapman
Department of Medicine, University of Chicago, Chicago, Illinois, USA
Helen Coolican
Head Office, Polycystic Kidney Disease Foundation of Australia, Sydney, New South Wales, Australia
Juliana Tze-Wah Kao
School of Medicine, Fu Jen Catholic University Hospital, New Taipei City, Taiwan
Ronald Perrone
Division of Nephrology, Tufts University School of Medicine, Boston, Massachusetts, USA
Vincent Torres
Department of Nephrology and Hypertension, Mayo Clinic, Rochester, New York, USA
Kevin Fowler
Kidney Health Initiative, The Voice of the Patient, Washington, DC, USA
York Pei
Divisions of Nephrology and Genomic Medicine, University of Toronto, Toronto, Ontario, Canada
Jessica Ryan
Nephrology, Monash Medical Centre Clayton, Melbourne, Victoria, Australia
Andrea Viecelli
Australasian Kidney Trials Network, The University of Queensland, Brisbane, Queensland, Australia
Clair Geneste
Department of Nephrology and Clinical Immunology, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Hyunsuk Kim
Internal Medicine, Seoul National University Hospital, Jongno-gu, South Korea
Yaerim Kim
Department of Internal Medicine, Keimyung University School of Medicine, Daegu, Korea (the Republic of)
Gayathri Parasivam
Discipline of Genetic Medicine, The University of Sydney Medical School, Sydney, New South Wales, Australia
Background and objectives Presymptomatic testing is available for early diagnosis of hereditary autosomal dominant polycystic kidney disease (ADPKD). However, the complex ethical and psychosocial implications can make decision-making challenging and require an understanding of patients’ values, goals and priorities. This study aims to describe patient and caregiver beliefs and expectations regarding presymptomatic testing for ADPKD.Design, setting and participants 154 participants (120 patients and 34 caregivers) aged 18 years and over from eight centres in Australia, France and Korea participated in 17 focus groups. Transcripts were analysed thematically.Results We identified five themes: avoiding financial disadvantage (insecurity in the inability to obtain life insurance, limited work opportunities, financial burden); futility in uncertainty (erratic and diverse manifestations of disease limiting utility, taking preventive actions in vain, daunted by perplexity of results, unaware of risk of inheriting ADPKD); lacking autonomy and support in decisions (overwhelmed by ambiguous information, medicalising family planning, family pressures); seizing control of well-being (gaining confidence in early detection, allowing preparation for the future, reassurance in family resilience); and anticipating impact on quality of life (reassured by lack of symptoms, judging value of life with ADPKD).Conclusions For patients with ADPKD, presymptomatic testing provides an opportunity to take ownership of their health through family planning and preventive measures. However, these decisions can be wrought with tensions and uncertainty about prognostic implications, and the psychosocial and financial burden of testing. Healthcare professionals should focus on genetic counselling, mental health and providing education to patients’ families to support informed decision-making. Policymakers should consider the cost burden and risk of discrimination when informing government policies. Finally, patients are recommended to focus on self-care from an early age.