A Diagnosis or a Trap: Exploring the Psychosocial and Ethical Impacts of Autosomal Dominant Polycystic Kidney Disease Diagnosis

TL;DR

This study examines the emotional, social, and ethical impacts of early diagnosis for Autosomal Dominant Polycystic Kidney Disease (ADPKD) in patients from Türkiye.

Contribution

The study provides new insights into the psychosocial and ethical challenges of presymptomatic ADPKD diagnosis and the role of education and counseling.

Findings

Only 10% of participants reported direct disadvantages like employment or insurance issues from their diagnosis.

Higher education correlated with greater disease knowledge and increased likelihood of recommending family screening.

Most participants adopted lifestyle changes and were willing to screen their children, despite ethical concerns.

Abstract

Objective: This study aimed to explore the emotional, social, and ethical dimensions of early or presymptomatic diagnosis in individuals with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Methods: A total of 118 participants diagnosed with ADPKD were recruited from a tertiary nephrology center in Türkiye. Data were collected via a 22-item structured and open-ended questionnaire. Chi-square and non-parametric statistical tests were used to assess associations between awareness, attitudes, and demographic variables. Results: Although only 10% of participants reported direct disadvantages from their diagnosis, such as difficulties in employment, insurance, or relationships, many voiced concerns about stigma and long-term uncertainties. Genetic awareness was significantly associated with increased likelihood of recommending family screening (p = 0.022), and higher educational attainment correlated with greater disease knowledge (p < 0.01). Despite emotional burden, 71.2% of participants reported adopting lifestyle modifications, and 79.6% expressed willingness to screen their children, though often with ethical hesitation. Conclusions: While early diagnosis of ADPKD may offer clinical benefits, it also introduces complex psychosocial and ethical dilemmas. These findings highlight the importance of integrating patient-centered counseling, clear communication strategies, and supportive policies to ensure informed decision making and mitigate potential harms.