Implementing precision genomic medicine in the pediatric acute care setting has several challenges. First, the diagnosis must be made quickly. Second, the determination of pathogenicity must be accurate. Third, there must be a specific effective treatment for the child.
At Rady Children's institute for Genomic Medicine we have pioneered extremely rapid sequencing, combined with natural language processing of the electronic medical record, and automated analysis tools to help speed time to diagnosis. We have also begun rapid modeling of variants of uncertain significance in animal model systems in order to interrogate their pathogenicity. Finally, we can utilize these animal model systems to test different drugs to either establish a therapeutic regimen for the patients when therapies exist or to discover or repurpose existing compounds where there are no therapies.
1. Understand challenges to implementing precision medicine in an acute care setting
2. Understand how model systems are critical for solving the 'VUS problem'