O47: Fine-tuned large language models on clinical notes and structured ICD-10 codes facilitate making genetic test decisions for rare diseases

Molecular genetic testing has become an integral component in diagnosing rare diseases. Despite technological advances that have lowered sequencing costs, selecting the appropriate type of genetic tests remains complex due to many factors such as accuracy, informatics costs, and logistical requirements. Currently, gene panels and exome/genome sequencing (ES/GS) are two main molecular diagnostic modalities; however, determining which one to use often relies on human experts’ interpretation of ACMG (American College of Medical Genetics and Genomics) guidelines, a process that can be slow and difficult to standardize.