early onset polycystic kidney disease. Genet Med Of J Am Coll Med Genet 23:689–697. https:// doi.org/10.1038/s41436-020-01026-4 8. Bergmann C, Senderek J, Windelen E et al (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 67:829–848. https://doi.org/10.1111/j. 1523-1755.2005.00148.x 9. Guay-Woodford LM, Desmond RA (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics 111:1072–1080 10. Adeva M, El-Youssef M, Rossetti S et al (2006) Clinical and molecular characterization defnes a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medi The Polycystic Kidney Disease (PKD) Program at UCLA is dedicated to leading the fight against PKD by providing the highest-quality patient care, performing cuttingedge research and educating patients and healthcare professionals about the disease. Polycystic kidney disease is a systemic disease characterized by the accumulation of numerous fluid-filled cysts in the renal parenchyma and other organs, including the liver. It’s the third most common cause of kidney failure and the most common inherited form of kidney disease, often affecting multiple members and generations of the same family, including newborns, children and adults. The fragmentation of patient services has been a longstanding challenge for both PKD patients and healthcare providers. At UCLA, a multidisciplinary team offers comprehensive care for both autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). A focus on patient education Early diagnosis is critical to preserving good health. Like most other kidney diseases, PKD tends to progress without clear symptoms, meaning the diagnosis can be easily missed. PKD is diagnosed using kidney ultrasound, and UCLA nephrologists with the Polycystic Kidney Disease Program are available to consult with primary-care physicians to assess cases of suspected PKD. UCLAHEALTH.ORG 1-800-UCLA-MD1 (1-800-825-2631) Translational research improves patient outcomes Polycystic kidney disease is the focus of significant research, and patients are now benefitting from a more sophisticated understanding of the molecular underpinnings of kidney injury and cyst formation. This research has identified new potential therapeutic targets in effector molecules, says Dr. Anjay Rastogi, MD, PhD, associate professor and PKD program director. “There is a lot of excitement in the field regarding effector molecules,” he explains. “Researchers are increasingly interested in how those molecules can be modulated to slow down the progression of kidney disease.” Patients in the Polycystic Kidney Disease Program can access clinical trials that represent the leading edge of translational research, including studies on new therapies that could significantly delay the need for dialysis. An equally important part of care is providing patient education, Dr. Rastogi adds. Ccine (Baltimore) 85:1–21. https:// doi.orgrom au relatively small ABSTRACT 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. INTRODUCTION Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and affects about 10% of patients receiving kidney