Objectives: We survey recent developments in medical Information Extraction (IE) as reported in the literature from the past three years. Our focus is on the fundamental methodological paradigm shift from standard Machine Learning (ML) techniques to Deep Neural Networks (DNNs). We describe applications of this new paradigm concentrating on two basic IE tasks, named entity recognition and relation extraction, for two selected semantic classes—diseases and drugs (or medications)—and relations between them. Methods: For the time period from 2017 to early 2020, we searched for relevant publications from three major scientific communities: medicine and medical informatics, natural language processing, as well as neural networks and artificial intelligence. Results: In the past decade, the field of Natural Language Processing (NLP) has undergone a profound methodological shift from symbolic to distributed representations based on the paradigm of Deep Learning (DL). Meanwhile, this trend is, although with some delay, also reflected in the medical NLP community. In the reporting period, overwhelming experimental evidence has been gathered, as illustrated in this survey for medical IE, that DL-based approaches outperform non-DL ones by often large margins. Still, small-sized and access-limited corpora create intrinsic problems for data-greedy DL as do special linguistic phenomena of medical sublanguages that have to be overcome by adaptive learning strategies. Conclusions: The paradigm shift from (feature-engineered) ML to DNNs changes the fundamental methodological rules of the game for medical NLP. This change is by no means restricted to medical IE but should also deeply influence other areas of medical informatics, either NLP- or non-NLP-based.

Objective Automated clinical phenotyping is challenging because word-based features quickly turn it into a high-dimensional problem, in which the small, privacy-restricted, training datasets might lead to overfitting. Pretrained embeddings might solve this issue by reusing input representation schemes trained on a larger dataset. We sought to evaluate shallow and deep learning text classifiers and the impact of pretrained embeddings in a small clinical dataset. Materials and Methods We participated in the 2018 National NLP Clinical Challenges (n2c2) Shared Task on cohort selection and received an annotated dataset with medical narratives of 202 patients for multilabel binary text classification. We set our baseline to a majority classifier, to which we compared a rule-based classifier and orthogonal machine learning strategies: support vector machines, logistic regression, and long short-term memory neural networks. We evaluated logistic regression and long short-term memory using both self-trained and pretrained BioWordVec word embeddings as input representation schemes. Results Rule-based classifier showed the highest overall micro F1 score (0.9100), with which we finished first in the challenge. Shallow machine learning strategies showed lower overall micro F1 scores, but still higher than deep learning strategies and the baseline. We could not show a difference in classification efficiency between self-trained and pretrained embeddings. Discussion Clinical context, negation, and value-based criteria hindered shallow machine learning approaches, while deep learning strategies could not capture the term diversity due to the small training dataset. Conclusion Shallow methods for clinical phenotyping can still outperform deep learning methods in small imbalanced data, even when supported by pretrained embeddings.

From 2017 to 2019 the Text REtrieval Conference (TREC) held a challenge task on precision medicine using documents from medical publications (PubMed) and clinical trials. Despite lots of performance measurements carried out in these evaluation campaigns, the scientific community is still pretty unsure about the impact individual system features and their weights have on the overall system performance. In order to overcome this explanatory gap, we first determined optimal feature configurations using the Sequential Model-based Algorithm Configuration (SMAC) program and applied its output to a BM25-based search engine. We then ran an ablation study to systematically assess the individual contributions of relevant system features: BM25 parameters, query type and weighting schema, query expansion, stop word filtering, and keyword boosting. For evaluation, we employed the gold standard data from the three TREC Precision Medicine (TREC-PM) installments to evaluate the effectiveness of different features using the commonly shared infNDCG metric.

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