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Earlier diagnosis: progress, opportunity and a profound ethical dilemma
The discussion then moved to one of the most sensitive themes of the day: when and how to diagnose a child or young person who may have inherited ADPKD.
Personal testimonies demonstrated how much care has changed between generations. One participant described a mother who began dialysis at 50 in the 1980s, when the family received little information about inheritance or modifiable risks. Years later, the participant was treated for hypertension without anyone asking whether there might be an underlying familial kidney disease. A diagnosis came only after a further decade, followed by the message that little could be done beyond annual monitoring and blood-pressure medication.
The experience of the next generation is already different. ADPKD is better recognised, genetic testing and MRI are more accessible, blood-pressure management has improved, and disease-modifying treatments and clinical trials now exist. However, delayed diagnosis, incomplete family histories and the message that patients can do “nothing” have not disappeared.
The discussion repeatedly returned to a difficult distinction: a child can be tested, and testing may be the right decision for an individual family, but this does not mean that every at-risk child should automatically be tested.
The panel emphasised that the decision should follow expert counselling and shared decision-making. Before testing a child, the molecular diagnosis in the affected adult should, where possible, be clarified. This helps establish whether the variant identified in the family is genuinely disease-causing and allows any subsequent testing of the child to be targeted and meaningful.
Participants also challenged the assumption that genetic testing is uniquely consequential. In a family with established ADPKD, an ultrasound showing kidney cysts in a child may itself establish a diagnosis. Imaging and genetic testing can therefore carry similar implications for insurance, employment and the child’s medical record.