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Cascade counselling and testing. Recommendations of the European Society of Human Genetics

14 Dec 2025

Abstract excerpt

Cascade testing (CT) is an effective instrument for identifying an index patient's relatives at high risk of a heritable condition enabling informed decision-making on preventive interventions and reproductive choice. However, CT remains underutilised and faces barriers. Discussions are ongoing on how to optimise informing family members and testing uptake in a responsible manner. The European Society of Human...

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PMID: 41392321
DOI: 10.1038/s41431-025-01945-3

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