C LOGEMAN1,2, Y CHO3,4,5, B SAUTENET6, G RANGAN7, T GUTMAN1,2, J CRAIG1,2, A ONG8, A CHAPMAN9, C AHN10, H COOLICAN11, J TZE-WAH KAO12,13, R GANSEVOORT14, R PERRONE15, T HARRIS16, V TORRES17, Y PEI18, P KERR19, J RYAN19, A VIECELLI3, C GENESTE6, Y KIM10, M HOWELL1,2, A JU1,2, K MANERA1,2, A TEIXEIRA-PINTO1,2, A TONG1,2
1Centre For Kidney Research, Westmead, Australia, 2School of Public Health, The University of Sydney, Sydney, Australia, 3Department of Nephrology, Princess Alexandra Hospital, Brisbane, Australia, 4Australasian Kidney Trials Network, University of Queensland, Brisbane, Australia, 5Translational Research Institute, Brisbane, Australia, 6Department of Nephrology and Clinical Immunology, Tours Hospital, University Francois Rabelais, Tours, France, 7Centre for Transplant and Renal Research, Westmead Institute for Medical Research, The University of Sydney, Westmead, Australia, 8Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, United Kingdom, 9Department of Medicine, The University of Chicago, Chicago, United States, 10Division of Nephrology, Seoul National University Hospital, , Seoul, South Korea, 11Polycystic Kidney Disease Foundation of Australia, , Australia, 12School of Medicine, Fu Jen Catholic University, , Taiwan, 13Department of Internal Medicine, National Taiwan University Hospital, , Taiwan, 14Faculty of Medical Sciences, University Medical Center Gronigen, , Netherlands, 15Division of Nephrology, Tufts University School of Medicine, , United States, 16Polycystic Kidney Disease International, , United Kingdom, 17Department of Nephrology and Hypertension, Mayo Clinic, , United States, 18Division of Nephrology and Division of Genomic Medicine, University of Toronto, , Canada, 19Department of Nephrology, Monash Medical Centre and Monash University, Melbourne, Australia
Aim: To describe patient and caregiver perspectives on the value and risks of genetic screening and testing for autosomal polycystic kidney disease (ADPKD).
Background: Predictive genetic screening and testing is available for accurate and early diagnosis of hereditary autosomal polycystic kidney disease. However, the complex ethical and psychosocial implications can make decision-making challenging and data on patients’ perspectives are limited.
Methods: 154 participants (120 patients and 34 caregivers) from 8 centres in Australia, France and Korea participated in 17 focus groups. Transcripts were analysed thematically.
Results: We identified five themes: financial constraints (insecurity in the inability to obtain life insurance, self-doubt in limited work opportunities, financial barrier of test); futility in unpredictability (accepting erratic and diverse manifestation of disease, inevitable disease progression, daunted by perplexity of results); lacking autonomy and support in decisions (overwhelmed by ambiguous information, medicalising family planning, appeasing the family, financial barrier); seizing control of wellbeing (gaining confidence through disease management, reassurance in family resilience, hope for health innovations to benefit the next generation, minimalising regret with preparation); and anticipating impact on quality of life (comforted by lack of symptoms, decisional uncertainty in risk of inheriting PKD, judging the value of life with PKD in family planning, guilt in foetal testing or abortion).
Conclusions: For patients with ADPKD, genetic screening or testing provides an opportunity for them to take ownership of their health through family planning and preventive measures. However, they are also concerned and uncertain about the accessibility of these services, psychological sequelae of testing, and potential financial consequences. Patient-centred genetic counselling and education that addresses patients’ concerns may support informed decision-making about genetic testing and screening in ADPKD.
Miss Logeman is a research officer at the Centre for Kidney Research . She undertook her Honours Bachelor of Science in Canada from the University of Guelph focusing on molecular biology and genetics. She graduated with a Masters of Public Health from the University of Sydney in 2017. She is currently on the coordinating committee for the Standardised Outcomes in Nephrology (SONG) initiative and the Patient-Centred Research Network (PACER).