Luke V. Rasmussen

Chengsheng Mao, Jie Xu, Luke Rasmussen et al.

Objective: We develop a deep learning framework based on the pre-trained Bidirectional Encoder Representations from Transformers (BERT) model using unstructured clinical notes from electronic health records (EHRs) to predict the risk of disease progression from Mild Cognitive Impairment (MCI) to Alzheimer's Disease (AD). Materials and Methods: We identified 3657 patients diagnosed with MCI together with their progress notes from Northwestern Medicine Enterprise Data Warehouse (NMEDW) between 2000-2020. The progress notes no later than the first MCI diagnosis were used for the prediction. We first preprocessed the notes by deidentification, cleaning and splitting, and then pretrained a BERT model for AD (AD-BERT) based on the publicly available Bio+Clinical BERT on the preprocessed notes. The embeddings of all the sections of a patient's notes processed by AD-BERT were combined by MaxPooling to compute the probability of MCI-to-AD progression. For replication, we conducted a similar set of experiments on 2563 MCI patients identified at Weill Cornell Medicine (WCM) during the same timeframe. Results: Compared with the 7 baseline models, the AD-BERT model achieved the best performance on both datasets, with Area Under receiver operating characteristic Curve (AUC) of 0.8170 and F1 score of 0.4178 on NMEDW dataset and AUC of 0.8830 and F1 score of 0.6836 on WCM dataset. Conclusion: We developed a deep learning framework using BERT models which provide an effective solution for prediction of MCI-to-AD progression using clinical note analysis.

Timothy M. Herr, Therese A. Nelson, Luke V. Rasmussen et al.

OBJECTIVE: To design and evaluate new pharmacogenomic (PGx) clinical decision support (CDS) alerts, built to adhere to PGx CDS design principles developed through socio-technical approaches. MATERIALS AND METHODS: Based on previously identified design principles, we created 11 new PGx CDS alert designs and developed an interactive web application containing realistic clinical scenarios and user workflows that mimicked a real-world EHR system. We recruited General Internal Medicine and Cardiology clinicians from Northwestern Medicine and recorded their interactions with the original and new designs. We measured clinician response, satisfaction, speed, and confidence through questionnaires and analysis of the recordings. RESULTS: The study included 12 clinicians. Participants were significantly more satisfied (p=0.0000001), faster (p=0.009), and more confident (p<.05) with the new designs than the original ones. The study lacked statistical power to determine whether prescribing accuracy was improved, but participants were no less accurate, and clinical actions were more concordant with alert interactions (p=0.004) with the new designs. We found a significant learning curve associated with the original designs, which was eliminated with the new designs. DISCUSSION: This study successfully demonstrates that socio-technical and user-centered design techniques can improve PGx CDS alert designs. Best practices for PGx CDS design are limited in the literature, with few effectiveness studies available. These results can help guide future PGx CDS implementations to be more clinician friendly and less time-consuming. CONCLUSION: The results of this study support the PGx CDS design principles we proposed in previous work. As a next step, the new designs should be implemented in a live setting for further validation.

Zhenxing Xu, Jingyuan Chou, Xi Sheryl Zhang et al.

Acute Kidney Injury (AKI) is a common clinical syndrome characterized by the rapid loss of kidney excretory function, which aggravates the clinical severity of other diseases in a large number of hospitalized patients. Accurate early prediction of AKI can enable in-time interventions and treatments. However, AKI is highly heterogeneous, thus identification of AKI sub-phenotypes can lead to an improved understanding of the disease pathophysiology and development of more targeted clinical interventions. This study used a memory network-based deep learning approach to discover AKI sub-phenotypes using structured and unstructured electronic health record (EHR) data of patients before AKI diagnosis. We leveraged a real world critical care EHR corpus including 37,486 ICU stays. Our approach identified three distinct sub-phenotypes: sub-phenotype I is with an average age of 63.03$ \pm 17.25 $ years, and is characterized by mild loss of kidney excretory function (Serum Creatinine (SCr) $1.55\pm 0.34$ mg/dL, estimated Glomerular Filtration Rate Test (eGFR) $107.65\pm 54.98$ mL/min/1.73$m^2$). These patients are more likely to develop stage I AKI. Sub-phenotype II is with average age 66.81$ \pm 10.43 $ years, and was characterized by severe loss of kidney excretory function (SCr $1.96\pm 0.49$ mg/dL, eGFR $82.19\pm 55.92$ mL/min/1.73$m^2$). These patients are more likely to develop stage III AKI. Sub-phenotype III is with average age 65.07$ \pm 11.32 $ years, and was characterized moderate loss of kidney excretory function and thus more likely to develop stage II AKI (SCr $1.69\pm 0.32$ mg/dL, eGFR $93.97\pm 56.53$ mL/min/1.73$m^2$). Both SCr and eGFR are significantly different across the three sub-phenotypes with statistical testing plus postdoc analysis, and the conclusion still holds after age adjustment.

Prakash Adekkanattu, Guoqian Jiang, Yuan Luo et al.

While natural language processing (NLP) of unstructured clinical narratives holds the potential for patient care and clinical research, portability of NLP approaches across multiple sites remains a major challenge. This study investigated the portability of an NLP system developed initially at the Department of Veterans Affairs (VA) to extract 27 key cardiac concepts from free-text or semi-structured echocardiograms from three academic medical centers: Weill Cornell Medicine, Mayo Clinic and Northwestern Medicine. While the NLP system showed high precision and recall measurements for four target concepts (aortic valve regurgitation, left atrium size at end systole, mitral valve regurgitation, tricuspid valve regurgitation) across all sites, we found moderate or poor results for the remaining concepts and the NLP system performance varied between individual sites.

Yizhen Zhong, Luke Rasmussen, Yu Deng et al.

The automatic development of phenotype algorithms from Electronic Health Record data with machine learning (ML) techniques is of great interest given the current practice is very time-consuming and resource intensive. The extraction of design patterns from phenotype algorithms is essential to understand their rationale and standard, with great potential to automate the development process. In this pilot study, we perform network visualization on the design patterns and their associations with phenotypes and sites. We classify design patterns using the fragments from previously annotated phenotype algorithms as the ground truth. The classification performance is used as a proxy for coherence at the attribution level. The bag-of-words representation with knowledge-based features generated a good performance in the classification task (0.79 macro-f1 scores). Good classification accuracy with simple features demonstrated the attribution coherence and the feasibility of automatic identification of design patterns. Our results point to both the feasibility and challenges of automatic identification of phenotyping design patterns, which would power the automatic development of phenotype algorithms.

Himanshu Sharma, Chengsheng Mao, Yizhen Zhang et al.

This paper presents a portable phenotyping system that is capable of integrating both rule-based and statistical machine learning based approaches. Our system utilizes UMLS to extract clinically relevant features from the unstructured text and then facilitates portability across different institutions and data systems by incorporating OHDSI's OMOP Common Data Model (CDM) to standardize necessary data elements. Our system can also store the key components of rule-based systems (e.g., regular expression matches) in the format of OMOP CDM, thus enabling the reuse, adaptation and extension of many existing rule-based clinical NLP systems. We experimented with our system on the corpus from i2b2's Obesity Challenge as a pilot study. Our system facilitates portable phenotyping of obesity and its 15 comorbidities based on the unstructured patient discharge summaries, while achieving a performance that often ranked among the top 10 of the challenge participants. This standardization enables a consistent application of numerous rule-based and machine learning based classification techniques downstream.