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SHREC: A Framework for Advancing Next-Generation Computational Phenotyping with Large Language Models.

Sarah Pungitore1, Shashank Yadav2, Molly Douglas3

  • 1Program in Applied Mathematics, The University of Arizona, Tucson, AZ.

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Lightweight large language models (LLMs) show promise in automating computational phenotyping, reducing manual review time. The SHREC framework successfully integrated LLMs for patient phenotyping, demonstrating high accuracy in concept classification and patient identification.

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Area of Science:

  • Biomedical Informatics
  • Artificial Intelligence in Healthcare

Background:

  • Computational phenotyping is crucial for cohort identification but is labor-intensive due to manual data review.
  • Limited automation in current phenotyping methods hinders scalability and efficiency.

Purpose of the Study:

  • To evaluate the effectiveness of lightweight large language models (LLMs) in automating computational phenotyping tasks.
  • To introduce SHREC, a framework for integrating LLMs into end-to-end phenotyping pipelines.

Main Methods:

  • Tested three lightweight LLMs (Gemma2, Mistral Small, Phi-4) for concept classification and patient phenotyping.
  • Utilized phenotypes for Acute Respiratory Failure (ARF) respiratory support therapies.
  • Assessed model performance using Area Under the Receiver Operating Characteristic Curve (AUROC) and specificity.

Main Results:

  • All tested LLMs performed well in concept classification, with Mistral Small achieving an AUROC of 0.896.
  • Models exhibited high specificity for all phenotypes.
  • The top-performing model, Mistral Small, achieved an average AUROC of 0.853 for single-therapy phenotypes.

Conclusions:

  • Lightweight LLMs can effectively assist researchers in resource-intensive phenotyping tasks.
  • LLMs offer advantages such as adaptability via prompt engineering and the ability to process raw Electronic Health Record (EHR) data.
  • Future research should focus on optimizing biomedical data integration and understanding LLM reasoning errors.