Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

• Published in: Orphanet journal of rare diseases 2020-06, Vol.15 (1), p.1-144, Article 144
• Main Authors: Eggermann, Thomas, Elbracht, Miriam, Kurth, Ingo, Juul, Anders, Johannsen, Trine Holm, Netchine, Irène, Mastorakos, George, Johannsson, Gudmundur, Musholt, Thomas J, Zenker, Martin, Prawitt, Dirk, Pereira, Alberto M, Hiort, Olaf, Riedl, Stefan, Vila, Greisa, Baumgartner-Parzner, Sabina, Heinrichs, Claudine, Maiter, Dominique, Gies, Inge, Cools, Martine, Casteels, Kristina, Beckers, Albert, Zacharieva, Sabina, Iotova, Violeta, Rahelic, Dario, Neocleous, Vassos, Phylactou, Leonidas, Krsek, Michal, Lebl, Jan, Gravholt, Claus, Tillmann, Vallo, Volke, Vallo, Ebeling, Tapani, Brue, Thierry, Bertherat, Jérôme, Bernert, Christine Poitou, Touraine, Philippe, Chanson, Philippe, Polak, Michel, Tauber, Maithe, Spranger, Joachim, Fuhrer, Dagmar, Danne, Thomas, Mohnike, Klaus, Reisch, Nicole, Reincke, Martin, Rohayem, Julia, Fassnacht, Martin, Tóth, Miklós, Cassio, Alessandra, Toni, Sonia, Piccini, Barbara, Ferone, Diego, Russo, Gianni, Persani, Luca, Colao, Annamaria, Salerno, Mariacarolina, Boscaro, Marco, Scaroni, Carla, Santini, Ferruccio, Ceccarini, Giovanni, Ghigo, Ezio, Dzivite - Krisane, Iveta, Rovite, Vita, Janozola, Lauma, Verkauskiene, Rasa, Witsch, Michael, Clark, James, Romijn, Johannes, Links, Thera, Biermasz, Nienke, Hannema, Sabine, Havekes, Bas, der Grinten, Hedi Claahsen-van, Timmers, Henri, Peeters, Robin, Valk, Gerlof, Stuart, A. A. Verrijn, Husebye, Eystein, Bollerslev, Jens, Jarzab, Barbara, Szypowska, Agnieszka, Raposo, João-Filipe, Craiu, Dana, Piciu, Doina, Kostalova, Ludmila, Vojtková, Jarmila, Battelino, Tadej, Cardona-Hernandez, Roque, Yeste, Diego, Gaztambide, Sonia, Nordenström, Anna, Gittoes, Neil, Cole, Trevor, Ahmed, Faisal, Didi, Mohammed, Korbonits, Marta, Dattani, Mehul, Clayton, Peter, Davies, Justin
• Format: Article
• Language: English
• Subjects: beckwith-wiedemann syndrome; challenges; children; Clinical decision making; Congenital diseases; Decision making; Diagnosis; Diagnostic tests; differences; Differences of sex development; disorders of sex development; Endocrine disorders; Endocrinology and Diabetes; Endokrinologi och diabetes; Epigenetic inheritance; Epigenetics; Etiology; Family medical history; Genes; Genetic counseling; Genetic screening; Genetic testing; Genetics & Heredity; glucose and insulin homeostasis; Hypogonadotropic hypogonadism; Imprinting disorders; Laboratories; Life Sciences; management; Medical Genetics; Medical research; Medicinsk genetik; Mutation; Next-generation sequencing; Pediatrics; Pediatrik; prediction; Rare diseases; Rare endocrine conditions; Research & Experimental Medicine; Review; risk; Short; Short stature - glucose and insulin homeostasis - Hypogonadotropic hypogonadism - differences/disorders of sex development; stature; Tumors; variants
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-020-01420-w

With the development of molecular high-throughput assays (i.e. next generation sequencing), the knowledge on the contribution of genetic and epigenetic alterations to the etiology of inherited endocrine disorders has massively expanded. However, the rapid implementation of these new molecular tools in the diagnostic settings makes the interpretation of diagnostic data increasingly complex. The decision on genetic testing in the diagnostic workup of endocrine disorders should be based on their appropriateness to reliably detect the disease-causing and -modifying mutation, their informational value, and cost-effectiveness. The future assessment of data from different omic approaches should be embedded in interdisciplinary discussions using all available clinical and molecular data.