JEPA-DNA: Grounding Genomic Foundation Models through Joint-Embedding Predictive Architectures

Genomic Foundation Models (GFMs) have largely relied on Masked Language Modeling (MLM) or Next Token Prediction (NTP) to learn the language of life. While these paradigms excel at capturing local genomic syntax and fine-grained motif patterns, they often fail to capture the broader functional context, resulting in representations that lack a global biological perspective. We introduce JEPA-DNA, a novel pre-training framework that integrates the Joint-Embedding Predictive Architecture (JEPA) with traditional generative objectives. JEPA-DNA introduces latent grounding by coupling token-level recovery with a predictive objective in the latent space by supervising a CLS token. This forces the model to predict the high-level functional embeddings of masked genomic segments rather than focusing solely on individual nucleotides. JEPA-DNA extends both NTP and MLM paradigms and can be deployed either as a standalone from-scratch objective or as a continual pre-training enhancement for existing GFMs. Our evaluations across a diverse suite of genomic benchmarks demonstrate that JEPA-DNA consistently yields superior performance in supervised and zero-shot tasks compared to generative-only baselines. By providing a more robust and biologically grounded representation, JEPA-DNA offers a scalable path toward foundation models that understand not only the genomic alphabet, but also the underlying functional logic of the sequence.

A Case Study Exploring the Current Landscape of Synthetic Medical Record Generation with Commercial LLMs

Synthetic Electronic Health Records (EHRs) offer a valuable opportunity to create privacy preserving and harmonized structured data, supporting numerous applications in healthcare. Key benefits of synthetic data include precise control over the data schema, improved fairness and representation of patient populations, and the ability to share datasets without concerns about compromising real individuals privacy. Consequently, the AI community has increasingly turned to Large Language Models (LLMs) to generate synthetic data across various domains. However, a significant challenge in healthcare is ensuring that synthetic health records reliably generalize across different hospitals, a long standing issue in the field. In this work, we evaluate the current state of commercial LLMs for generating synthetic data and investigate multiple aspects of the generation process to identify areas where these models excel and where they fall short. Our main finding from this work is that while LLMs can reliably generate synthetic health records for smaller subsets of features, they struggle to preserve realistic distributions and correlations as the dimensionality of the data increases, ultimately limiting their ability to generalize across diverse hospital settings.