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

<b>Objective</b>: 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). <b>Methods</b>: 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. <b>Results</b>: 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 (<i>p</i> = 0.022), and higher educational attainment correlated with greater disease knowledge (<i>p</i> < 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. <b>Conclusions</b>: 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.

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Journal
Healthcare
Published
2025-06-02
DOI
https://doi.org/10.3390/healthcare13111316
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
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article

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

Mert Türk, Cuma Bülent Gul
1 links
Healthcare
Genetic and Kidney Cyst Diseases
article

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

Mert Türk, Cuma Bülent Gul
article en

Abstract

<b>Objective</b>: 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). <b>Methods</b>: 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. <b>Results</b>: 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 (<i>p</i> = 0.022), and higher educational attainment correlated with greater disease knowledge (<i>p</i> < 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. <b>Conclusions</b>: 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.

HealthcareVol. 13(11)
Bursa Uludağ Üni̇versi̇tesi̇ (TR)
Openalex Percentile: Top 86%
Genetic and Kidney Cyst Diseases
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