European journal of human genetics : EJHG
Cascade counselling and testing. Recommendations of the European Society of Human Genetics.
Guido de Wert, Carla G van El, Angus Clarke, Christophe Cordier, Florence Fellmann, Maurizio Genuardi, Sabine Hentze, Hülya Kayserili, Milan Macek, Rhona MacLeod, Béla Melegh, Álvaro Mendes, Emmanuelle Rial-Sebbag, Vigdís Stefánsdóttir, Lisbeth Tranebjærg
Published: 202510.1038/s41431-025-01945-3
Abstract
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 underutilise…
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