'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 LogemanYeoungjee ChoBenedicte SautenetGopala K RanganTalia GutmanJonathan CraigAlbert OngArlene ChapmanCurie AhnHelen CoolicanJuliana Tze-Wah KaoRon T GansevoortRonald PerroneTess HarrisVincent TorresKevin FowlerYork PeiPeter KerrJessica RyanDavid JohnsonAndrea ViecelliClair GenesteHyunsuk KimYaerim KimMartin HowellAngela JuKarine E ManeraArmando Teixeira-PintoGayathri ParasivamAllison TongPublished in: BMJ open (2020)
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.
Keyphrases
- mental health
- end stage renal disease
- ejection fraction
- healthcare
- chronic kidney disease
- decision making
- polycystic kidney disease
- peritoneal dialysis
- risk factors
- gene expression
- genome wide
- hepatitis c virus
- smoking cessation
- men who have sex with men
- human immunodeficiency virus
- quality improvement
- climate change
- social media
- health insurance