Background: In health care, diagnosis codes in claims data and electronic health records (EHRs) play an important role in data-driven decision making. Any analysis that uses a patient's diagnosis codes to predict future outcomes or describe morbidity requires a numerical representation of this diagnosis profile made up of string-based diagnosis codes. These numerical representations are especially important for machine learning models. Most commonly, binary-encoded representations have been used, usually for a subset of diagnoses. In real-world health care applications, several issues arise: patient profiles show high variability even when the underlying diseases are the same, they may have gaps and not contain all available information, and a large number of appropriate diagnoses must be considered.
Objective: We herein present Pat2Vec, a self-supervised machine learning framework inspired by neural network-based natural language processing that embeds complete diagnosis profiles into a small real-valued numerical vector.
Methods: Based on German outpatient claims data with diagnosis codes according to the International Statistical Classification of Diseases and Related Health Problems, 10th Revision (ICD-10), we discovered an optimal vectorization embedding model for patient diagnosis profiles with Bayesian optimization for the hyperparameters. The calibration process ensured a robust embedding model for health care-relevant tasks by aggregating the metrics of different regression and classification tasks using different machine learning algorithms (linear and logistic regression as well as gradient-boosted trees). The models were tested against a baseline model that binary encodes the most common diagnoses. The study used diagnosis profiles and supplementary data from more than 10 million patients from 2016 to 2019 and was based on the largest German ambulatory claims data set. To describe subpopulations in health care, we identified clusters (via density-based clustering) and visualized patient vectors in 2D (via dimensionality reduction with uniform manifold approximation). Furthermore, we applied our vectorization model to predict prospective drug prescription costs based on patients' diagnoses.
Results: Our final models outperform the baseline model (binary encoding) with equal dimensions. They are more robust to missing data and show large performance gains, particularly in lower dimensions, demonstrating the embedding model's compression of nonlinear information. In the future, other sources of health care data can be integrated into the current diagnosis-based framework. Other researchers can apply our publicly shared embedding model to their own diagnosis data.
Conclusions: We envision a wide range of applications for Pat2Vec that will improve health care quality, including personalized prevention and signal detection in pati
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