‘A sword of Damocles’: patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study
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, goal...
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BMJ Publishing Group
2020-10-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/10/10/e038005.full |
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| author | 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 |
| author_facet | 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 |
| author_sort | Angela Ju |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e8d547dcad65403eb9a4e532022791fc |
| institution | Kabale University |
| issn | 2044-6055 |
| language | English |
| publishDate | 2020-10-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Open |
| spelling | doaj-art-e8d547dcad65403eb9a4e532022791fc2024-11-16T09:35:11ZengBMJ Publishing GroupBMJ Open2044-60552020-10-01101010.1136/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 studyAngela Ju0Allison Tong1Armando Teixeira-Pinto2David Johnson3Jonathan Craig4Martin Howell5Ron T Gansevoort6Talia Gutman7Karine E Manera8Peter Kerr9Gopala K Rangan10Curie Ahn11Tess Harris12Charlotte Logeman13Yeoungjee Cho14Benedicte Sautenet15Albert Ong16Arlene Chapman17Helen Coolican18Juliana Tze-Wah Kao19Ronald Perrone20Vincent Torres21Kevin Fowler22York Pei23Jessica Ryan24Andrea Viecelli25Clair Geneste26Hyunsuk Kim27Yaerim Kim28Gayathri Parasivam29Centre for Kidney Research, Westmead Hospital, Westmead, New South Wales, AustraliaSydney School of Public Health, The University of Sydney, Sydney, New South Wales, AustraliaCentre for Kidney Research, The Children’s Hospital at Westmead, Sydney, New South Wales, AustraliaDepartment of Renal Medicine, Princess Alexandra Hospital, Woolloongabba, Queensland, AustraliaCollege of Medicine and Public Health, Flinders University, Adelaide, South Australia, AustraliaCentre for Kidney Research, The Children`s Hospital at Westmead, Westmead, New South Wales, AustraliaDepartment of Nephrology, University of Groningen, University Medical Center Groningen, Groningen, The NetherlandsSydney School of Public Health, The University of Sydney, Sydney, New South Wales, AustraliaSchool of Public Health, The University of Sydney, Sydney, New South Wales, AustraliaNephrology, Monash Medical Centre Clayton, Melbourne, Victoria, AustraliaMichael Stern Laboratory for Polycystic Kidney Disease, Westmead Institute for Medical Research, Westmead, New South Wales, AustraliaInternal Medicine, Seoul National University, Seoul, South KoreaPopulation Health Research Institute, St Georges, University of London, London, UKSchool of Public Health, The University of Sydney, Sydney, New South Wales, AustraliaDepartment of Nephrology, Princess Alexandra Hospital, Brisbane, Queensland, AustraliaDepartment of Nephrology Hypertension, Centre Hospitalier Régional Universitaire de Tours, Tours, FranceAcademic Nephrology Unit, The Henry Wellcome Laboratories for Medical Research, University of Sheffield Medical School, Sheffield, UKDepartment of Medicine, University of Chicago, Chicago, Illinois, USAHead Office, Polycystic Kidney Disease Foundation of Australia, Sydney, New South Wales, AustraliaSchool of Medicine, Fu Jen Catholic University Hospital, New Taipei City, TaiwanDivision of Nephrology, Tufts University School of Medicine, Boston, Massachusetts, USADepartment of Nephrology and Hypertension, Mayo Clinic, Rochester, New York, USAKidney Health Initiative, The Voice of the Patient, Washington, DC, USADivisions of Nephrology and Genomic Medicine, University of Toronto, Toronto, Ontario, CanadaNephrology, Monash Medical Centre Clayton, Melbourne, Victoria, AustraliaAustralasian Kidney Trials Network, The University of Queensland, Brisbane, Queensland, AustraliaDepartment of Nephrology and Clinical Immunology, Centre Hospitalier Régional Universitaire de Tours, Tours, FranceInternal Medicine, Seoul National University Hospital, Jongno-gu, South KoreaDepartment of Internal Medicine, Keimyung University School of Medicine, Daegu, Korea (the Republic of)Discipline of Genetic Medicine, The University of Sydney Medical School, Sydney, New South Wales, AustraliaBackground 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.https://bmjopen.bmj.com/content/10/10/e038005.full |
| spellingShingle | 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 ‘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 |
| title | ‘A sword of Damocles’: patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study |
| title_full | ‘A sword of Damocles’: patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study |
| title_fullStr | ‘A sword of Damocles’: patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study |
| title_full_unstemmed | ‘A sword of Damocles’: patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study |
| title_short | ‘A sword of Damocles’: patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study |
| title_sort | a sword of damocles patient and caregiver beliefs attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease a focus group study |
| url | https://bmjopen.bmj.com/content/10/10/e038005.full |
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