Kidney Week

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

Authors

• Logeman, Charlotte, Centre for Kidney Research, Camperdown, New South Wales, Australia

Charlotte Logeman,

• Cho, Yeoung Jee, Princess Alexandra Hospital, Brisbane, Queensland, Australia

Yeoung Jee Cho,

• Rangan, Gopi, Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia

Gopi Rangan,

• Gutman, Talia M., Centre for Kidney Research, Camperdown, New South Wales, Australia

Talia M. Gutman,

• Craig, Jonathan C., University of Sydney/Children's Hospital, Sydney, New South Wales, Australia

Jonathan C. Craig,

• Ong, Albert C., University of Sheffield, Sheffield, United Kingdom

Albert C. Ong,

• Chapman, Arlene B., University of Chicago, Chicago, Illinois, United States

Arlene B. Chapman,

• Ahn, Curie, Seoul National University Hospital, Seoul, Korea (the Republic of)

Curie Ahn,

• Gansevoort, Ron T., University Medical Center Groningen, Groningen, Netherlands

Ron T. Gansevoort,

• Perrone, Ronald D., Tufts Medical Center, Boston, Massachusetts, United States

Ronald D. Perrone,

• Harris, Tess M., Polycystic Kidney Disease Charity, London, United Kingdom

Tess M. Harris,

• Torres, Vicente E., Mayo Clinic , Rochester, Minnesota, United States

Vicente E. Torres,

• Pei, York P., University Health Network and University of Toronto, Toronto, Ontario, Canada

York P. Pei,

• Ryan, Jessica, Monash Health, Clayton, New South Wales, Australia

Jessica Ryan,

• Viecelli, Andrea K., Princess Alexandra Hospital, Brisbane, Queensland, Australia

Andrea K. Viecelli,

• Geneste, Claire, University Francois Rabelais, Tours, France

Claire Geneste,

• Kim, Yaerim, Seoul National University Hospital, Seoul, Korea (the Republic of)

Yaerim Kim,

• Howell, Martin, University of Sydney, School of Public Health, Sydney, New South Wales, Australia

Martin Howell,

• Manera, Karine E., The University of Sydney, Westmead, New South Wales, Australia

Karine E. Manera,

• Teixeira-Pinto, Armando, University of Sydney, Camperdown, New South Wales, Australia

Armando Teixeira-Pinto,

• Tong, Allison, The University of Sydney, Westmead, New South Wales, Australia

Allison Tong,

Group or Team Name

• SONG-PKD Steering Group

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

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).

Conclusion

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.