Extracting Family History of Patients From Clinical Narratives: Exploring an End-to-End Solution With Deep Learning Models
Bibliographic record
Abstract
BACKGROUND: Patients' family history (FH) is a critical risk factor associated with numerous diseases. However, FH information is not well captured in the structured database but often documented in clinical narratives. Natural language processing (NLP) is the key technology to extract patients' FH from clinical narratives. In 2019, the National NLP Clinical Challenge (n2c2) organized shared tasks to solicit NLP methods for FH information extraction. OBJECTIVE: This study presents our end-to-end FH extraction system developed during the 2019 n2c2 open shared task as well as the new transformer-based models that we developed after the challenge. We seek to develop a machine learning-based solution for FH information extraction without task-specific rules created by hand. METHODS: We developed deep learning-based systems for FH concept extraction and relation identification. We explored deep learning models including long short-term memory-conditional random fields and bidirectional encoder representations from transformers (BERT) as well as developed ensemble models using a majority voting strategy. To further optimize performance, we systematically compared 3 different strategies to use BERT output representations for relation identification. RESULTS: Our system was among the top-ranked systems (3 out of 21) in the challenge. Our best system achieved micro-averaged F1 scores of 0.7944 and 0.6544 for concept extraction and relation identification, respectively. After challenge, we further explored new transformer-based models and improved the performances of both subtasks to 0.8249 and 0.6775, respectively. For relation identification, our system achieved a performance comparable to the best system (0.6810) reported in the challenge. CONCLUSIONS: This study demonstrated the feasibility of utilizing deep learning methods to extract FH information from clinical narratives.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.005 |
| Meta-epidemiology (narrow) | 0.002 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.003 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.002 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".