hrp0095p1-134 | Growth and Syndromes | ESPE2022

Applying personalized medicine- From a unique endo-genetic clinic to a national project of certifying endocrinologists to perform genetic consults and testing

Shefer Averbuch Noa , Orenstein Naama , Greenberg Rotem , Ben-Shachar Shay , Phillip Moshe

Background: The rapid advancement in understanding molecular mechanisms, and the availability of genetic testing, has led to a paradigm change in many endocrine disorders. Making an accurate diagnosis enables tailored follow-up, treatment, and family genetic counselling. However, a cooperation is required, since the endocrinologist has a more profound understanding of the disorders, but the geneticist is usually better skilled in analyzing genetic results and ...