Signals. Two weeks ago, I participated in this year’s AI in Epilepsy Conference. The meeting brought together a field that is moving quickly, but not always at the same pace. I presented our computational approaches for real world data and natural history studies. However, in many areas of epilepsy, AI is already more advanced than what we currently use in genetics and rare disease research. Therefore, I was mainly there to learn. Here are three aspects of AI in medicine that I have thought about more since returning from the conference.
Tag Archives: EMR
How precise is precision medicine – the difference between theoretical guidelines and real-world practice in pediatric epilepsy
Precision medicine. This post continues the discussion on how we can make sense of clinical data in the absence of outcomes in the context of precision medicine – a concept that drives much of what we do on a research basis. The fundamental idea is that clinical care in pediatric epilepsies can be personalized and tailored to underlying etiologies. With continual progress in gene curation and variant interpretation alongside clinical knowledge, we typically expect that treatment suggestions are immediately implemented after the discovery of the causative genetic etiology. For example, a child with early onset epileptic encephalopathy is found to have a gain-of-function variant in SCN8A and is almost immediately started on a sodium channel blocker such as Trileptal. However, to what extent is this the case? In the context of precision medicine, how precise are we exactly?
STXBP1-related disorders: deciphering the phenotypic code
STX. Neurodevelopmental disorders due to disease-causing variants in STXBP1 are amongst the most common genetic epilepsies with an estimated incidence of 1:30,000. However, despite representing a well-known cause of developmental and epileptic encephalopathies in the first year of life, relatively little has been known about the overall genetic landscape and no genotype-phenotype correlations have been established. In our recent publication including almost 20,000 phenotypic annotations in 534 individuals with STXBP1-related disorders, we dive deep into the clinical spectrum, examine longitudinal phenotypes, and make first attempts at assessing medication efficacy based on objective information deposited in the Electronic Medical Records (EMR), including information from the almost 100 “STXers” seen at our center in the last four years. Continue reading