ADPKD Genetic Testing Minors Ethical Framework — ESENeph MCQ

Correct answer: E — Use counselling and shared decision-making about testing or surveillance

The best answer is “Use counselling and shared decision-making about testing or surveillance”. KDIGO emphasises counselling and shared decision-making for children at risk because immediate diagnosis and deferred testing with clinical surveillance can both be reasonable. A paediatric nephrologist and genetics professional help the family consider preferences, autonomy and actionable monitoring. “Require genetic testing now because every at-risk child must know their status” is less appropriate because testing asymptomatic minors is preference-sensitive and has medical, psychological, ethical and legal implications “Refuse counselling until the child reaches age 18” is less appropriate because the family should receive age-appropriate expert counselling and can discuss surveillance and diagnostic options now “Diagnose ADPKD because one parent is affected without testing or imaging” is less appropriate because inheritance risk does not itself establish that this child inherited the familial variant “Use annual contrast CT as the preferred surveillance strategy” is less appropriate because radiation and contrast make CT inappropriate for routine surveillance of an asymptomatic child

Reference: KDIGO 2025 ADPKD guideline: https://kdigo.org/wp-content/uploads/2025/01/KDIGO-2025-ADPKD-Guideline.pdf