ESPE Abstracts (2022) 95 P1-134

ESPE2022 Poster Category 1 Growth and Syndromes (85 abstracts)

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

Noa Shefer Averbuch 1,2,3 , Naama Orenstein 2,3 , Rotem Greenberg 4 , Shay Ben-Shachar 3,4 & Moshe Phillip 1,3

1The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; 2Recanati Genetic Institute, Rabin Medical Center–Beilinson Hospital, Petach Tikva, Israel; 3Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 4Clalit Research Institute, Innovation Division, Clalit Health Services, Ramat Gan, Israel

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 using bioinformatic tools.

Object: To evaluate endocrine patients with suspected genetic disorders in a unique clinic performed by a physician with skills in both endocrinology and genetics, with the escort of senior physicians in both clinics. In parallel, certifying endocrinologists to perform genetic consults, send genetic tests and interpret the results.

Methods: A unique endo-genetic clinic was founded in the Schneider Children's Medical Center of Israel in 2018. The clinic is performed by a pediatrician, completing now a double fellowship in both pediatric endocrinology and medical genetics (5.5 years fellowship). Because of a very high demand and dozens of referrals, a new nation-wide project was initiated by the clinic in collaboration with “Clalit” health services- the largest provider of public and semi-private health services in Israel. The purpose of the project is to certify endocrinologists to perform genetic consults, send genetic tests, analyze the results, and apply them to all relevant family members. The first topic elected for the project was monogenic diabetes. After a short course, the physicians used a gene panel test funded by “Clalit”, when patients met certain criteria.

Results: 169 genetic consults were performed until today in the unique endo-genetic clinic. The most common reason for referral was short stature (27% of consults) followed by monogenic diabetes (17%), recurrent hypoglycemia (7%), hypogonadotrophic hypogonadism (6%), obesity (6%), hypo\hypercalcemia (5%), CAH (5%) and more rare referrals including DSD, MPHD, overgrowth syndromes, hypergonadotrophic hypogonadism, bone metabolism abnormalities, thyroid abnormalities etc. In our nation-wide project, six courses were given to a total of 48 pediatric endocrinologists from different clinics across Israel. Over 50 monogenic diabetes gene panels were sent by the certified physicians. Further courses in other topics were set for 2022.

Conclusions: To best apply personalized medicine, an endo-genetic clinic is a crucial and imperative component in every endocrine clinic. Yet, it is not enough. In order to make genetic consults and testing more readily available, it is up to the endocrinologists to perform these.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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