JS5.3 - Transversal working group on genomic testing

European Journal of Endocrinology, vol. 195

Abstract

Abstract To faciliate focused activities for topical issues in genomic testing, ENDO-ERN has established a transversal working group (WG) in 2024. The major purposes of the WG group are to improve guidelines, identify gaps and updates in the field of genetic testing of endocrine disorders; to smooth and make genetic testing guidelines applicable, which consider daily routine and the best standard for genetic testing ensuring cooperation with other societies and avoiding double work; to suggest a standardised genetic testing regime whenever possible to guarantee a standarised testing procedure all over Europe; to orchestrate and to channel the activities of Endo-ERN in the field of genetics, to avoid fragmentation and unhelpful developments in genetic testing. In addition to a general overview on the WG, the presentation will focus on the joint activities to achieve a joint agreement on genetic testing and reporting from the clinical point of view, and the cooperation of ENDO-ERN with the European Society of Human Genetics.

Authors 1

1. Thomas Eggermann corresponding Aachen Center for Human Genetic and Clinical Genomics Medical Faculty

   RWTH Aachen University

   Affiliation as printed

   Center for Human Genetic and Clinical Genomics, Medical Faculty, RWTH University Aachen , Aachen ,