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Abstract: SA-PO494

Patient and Caregiver Beliefs, Attitudes, and Perspectives on Genetic Screening and Testing for Autosomal Polycystic Kidney Disease

Session Information

  • ADPKD: Clinical Studies
    October 27, 2018 | Location: Exhibit Hall, San Diego Convention Center
    Abstract Time: 10:00 AM - 12:00 PM

Category: Genetic Diseases of the Kidney

  • 1001 Genetic Diseases of the Kidney: Cystic


  • Logeman, Charlotte, Centre for Kidney Research, Camperdown, New South Wales, Australia
  • Cho, Yeoung Jee, Princess Alexandra Hospital, Brisbane, Queensland, Australia
  • Rangan, Gopi, Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia
  • Gutman, Talia M., Centre for Kidney Research, Camperdown, New South Wales, Australia
  • Craig, Jonathan C., University of Sydney/Children's Hospital, Sydney, New South Wales, Australia
  • Ong, Albert C., University of Sheffield, Sheffield, United Kingdom
  • Chapman, Arlene B., University of Chicago, Chicago, Illinois, United States
  • Ahn, Curie, Seoul National University Hospital, Seoul, Korea (the Republic of)
  • Gansevoort, Ron T., University Medical Center Groningen, Groningen, Netherlands
  • Perrone, Ronald D., Tufts Medical Center, Boston, Massachusetts, United States
  • Harris, Tess M., Polycystic Kidney Disease Charity, London, United Kingdom
  • Torres, Vicente E., Mayo Clinic , Rochester, Minnesota, United States
  • Pei, York P., University Health Network and University of Toronto, Toronto, Ontario, Canada
  • Ryan, Jessica, Monash Health, Clayton, New South Wales, Australia
  • Viecelli, Andrea K., Princess Alexandra Hospital, Brisbane, Queensland, Australia
  • Geneste, Claire, University Francois Rabelais, Tours, France
  • Kim, Yaerim, Seoul National University Hospital, Seoul, Korea (the Republic of)
  • Howell, Martin, University of Sydney, School of Public Health, Sydney, New South Wales, Australia
  • Manera, Karine E., The University of Sydney, Westmead, New South Wales, Australia
  • Teixeira-Pinto, Armando, University of Sydney, Camperdown, New South Wales, Australia
  • Tong, Allison, The University of Sydney, Westmead, New South Wales, Australia

Group or Team Name

  • SONG-PKD Steering Group

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. We aimed to describe patient and caregiver perspectives on the value and risks of genetic screening and testing for autosomal polycystic kidney disease (ADPKD).


154 participants (120 patients and 34 caregivers) from 8 centres in Australia, France and Korea participated in 17 focus groups. Transcripts were analysed thematically.


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).


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.