'A sword of Damocles': patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study

Charlotte Logeman; Yeoungjee Cho; Benedicte Sautenet; Gopala K Rangan; Talia Gutman; Jonathan Craig; Albert Ong; Arlene Chapman; Curie Ahn; Helen Coolican; Juliana Tze-Wah Kao; Ron T Gansevoort; Ronald Perrone; Tess Harris; Vincent Torres; Kevin Fowler; York Pei; Peter Kerr; Jessica Ryan; David Johnson; Andrea Viecelli; Clair Geneste; Hyunsuk Kim; Yaerim Kim; Martin Howell; Angela Ju; Karine E Manera; Armando Teixeira-Pinto; Gayathri Parasivam; Allison Tong

doi:10.1136/bmjopen-2020-038005

'A sword of Damocles': patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study

BMJ Open. 2020 Oct 10;10(10):e038005. doi: 10.1136/bmjopen-2020-038005.

Authors

Charlotte Logeman^{1

2}, Yeoungjee Cho^{3

4}, Benedicte Sautenet⁵, Gopala K Rangan^{6

7}, Talia Gutman^{8

2}, Jonathan Craig⁹, Albert Ong¹⁰, Arlene Chapman¹¹, Curie Ahn¹², Helen Coolican¹³, Juliana Tze-Wah Kao^{14

15}, Ron T Gansevoort¹⁶, Ronald Perrone¹⁷, Tess Harris^{18

19}, Vincent Torres²⁰, Kevin Fowler²¹, York Pei²², Peter Kerr²³, Jessica Ryan²³, David Johnson^{24

25}, Andrea Viecelli^{3

26}, Clair Geneste²⁷, Hyunsuk Kim²⁸, Yaerim Kim²⁹, Martin Howell^{30

31}, Angela Ju^{8

2}, Karine E Manera^{8

2}, Armando Teixeira-Pinto^{8

2}, Gayathri Parasivam^{32

33}, Allison Tong^{8

2}

Affiliations

¹ School of Public Health, The University of Sydney, Sydney, New South Wales, Australia charlotte.logeman@sydney.edu.au.
² Centre for Kidney Research, Westmead Hospital, Westmead, New South Wales, Australia.
³ Australasian Kidney Trials Network, University of Queensland at Princess Alexandra Hospital, Brisbane, Queensland, Australia.
⁴ Department of Nephrology, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia.
⁵ Department of Nephrology Hypertension, Centre Hospitalier Régional Universitaire de Tours, Tours, France.
⁶ Centre for Transplant and Renal Research, The Westmead Institute for Medical Research, Sydney, New South Wales, Australia.
⁷ Department of Renal Medicine, Westmead Hospital, Westmead, New South Wales, Australia.
⁸ School of Public Health, The University of Sydney, Sydney, New South Wales, Australia.
⁹ College of Medicine and Public Health, Flinders University Faculty of Medicine, Nursing and Health Sciences, Adelaide, South Australia, Australia.
¹⁰ Academic Nephrology Unit, The Henry Wellcome Laboratories for Medical Research, University of Sheffield Medical School, Sheffield, UK.
¹¹ Department of Medicine, University of Chicago, Chicago, Illinois, USA.
¹² Internal Medicine, Seoul National University, Seoul, South Korea.
¹³ Head Office, Polycystic Kidney Disease Foundation of Australia, Sydney, New South Wales, Australia.
¹⁴ School of Medicine, Fu Jen Catholic University Hospital, New Taipei City, Taiwan.
¹⁵ Department of Internal Medicine, National Taiwan University Hospital, Taipei, Taiwan.
¹⁶ Faculty of Medical Sciences, University Medical Center Groningen, Groningen, The Netherlands.
¹⁷ Division of Nephrology, Tufts University School of Medicine, Boston, Massachusetts, USA.
¹⁸ Head Office, PKD International, Geneva, Switzerland.
¹⁹ London Office, PKD International, London, UK.
²⁰ Department of Nephrology and Hypertension, Mayo Clinic, Rochester, New York, USA.
²¹ Kidney Health Initiative, The Voice of the Patient, Washington, DC, USA.
²² Divisions of Nephrology and Genomic Medicine, University of Toronto, Toronto, Ontario, Canada.
²³ Nephrology, Monash Medical Centre Clayton, Melbourne, Victoria, Australia.
²⁴ Department of Renal Medicine, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia.
²⁵ Australasian Kidney Trials Network, The University of Queensland, Saint Lucia, Queensland, Australia.
²⁶ School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
²⁷ Department of Nephrology and Clinical Immunology, Centre Hospitalier Régional Universitaire de Tours, Tours, France.
²⁸ Internal Medicine, Seoul National University Hospital, Jongno-gu, South Korea.
²⁹ Department of Internal Medicine, Keimyung University College of Medicine, Daegu, South Korea.
³⁰ Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
³¹ School of Public Health, University of Sydney, Sydney, New South Wales, Australia.
³² Discipline of Genetic Medicine, The University of Sydney Medical School, Sydney, New South Wales, Australia.
³³ Clinical Genetics, The Sydney Children's Hospitals Network Randwick and Westmead, Westmead, New South Wales, Australia.

Abstract

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.

Keywords: genetics; medical education & training; mental health; nephrology; paediatric nephrology.

Publication types

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

MeSH terms

Adolescent
Adult
Attitude
Australia
Caregivers*
Focus Groups
France
Humans
Polycystic Kidney, Autosomal Dominant* / diagnosis
Quality of Life
Republic of Korea