Bioscientifica GET 2023 | Endocrine Genetic Testing

Endocrine Genetic testing is a one-day event that provides clinicians with vital training on how to use genomic information in routine and diagnostic pathways.

Delegates will learn the skills required to better diagnose and manage patients with hereditary endocrine disorders.

The first part of day will cover information on who to test, why we test and how to test. We’ll cover background knowledge on basic interrogation of genomic data and interpretation of pathogenicity of genetic variants and relating them to clinical case-studies. The session will also focus on the aftermath of a positive genetic test result including cascade family screening and genetic counselling.

The second part of the day will provide focused breakout sessions on hereditary endocrine disorders, including primary hyperparathyroidism; pituitary tumours; phaeochromocytoma/paraganglioma; and endocrine neoplasia syndromes. We’ll focus on causative genes, criteria for genetic testing and management protocols for each condition using case-based vignettes.

EGT 2023 - Endocrine Genetic Testing

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