Genetic testing and reporting: What the endocrinologists should know and can expect (Joint position paper of the ENDO-ERN)

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ID: 328994
2026
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Abstract
Over the last decade, next generation sequencing (NGS) has become an essential tool for diagnostic DNA testing in human genetics. To improve the understanding of available genetic testing strategies and to facilitate the request of genetic testing in daily endocrine practice, clinical and laboratory experts in the field have summarized the major issues which should be known and considered. In this joint position paper of the ENDO-ERN, the roles and responsibilities of the health care professionals involved in the diagnostic workflow are described, and the major issues concerning genetic testing workflows are overviewed. These issues encompass all relevant steps, including test request and pre-analytical procedures, laboratory and data processing workflows, quality assurance, and reporting. As NGS procedures result in an increasing number of variants of unknown significance and incidental findings, these aspects are addressed as well. Accompanied by illustrations of the genetic diagnostic workflow and of concise reports for a fast orientation about the major aspects of genetic testing, this joint paper should support the health care professionals during a request for genetic testing.
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Authors Thomas Eggermann, Dorte L. Lildballe, Martine Cools, Bernadette van Nesselrooij, Vassos Neocleous, Pavlos Fanis, Athanasia Stoupa, Maria Luisa Brandi, Federico Baronio, Anne Barlier, Corinna Grasemann, Marco Bonomi, R. De Krijger, Soara Menabò, Adrian F Daly, Sofia Asioli, Susan O´Connell, Pedro Marques, Gérald Raverot, Federico Gatto, Nienke R. Biermasz, Iris C. M. Pelsma, Danielle van der Kaay, Claus Højbjerg Gravholt, Luca Persani, Dirk Prawitt
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Journal european journal of endocrinology
Year 2026
DOI
10.1093/ejendo/lvag177
URL
https://doi.org/10.1093/ejendo/lvag177
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