Foresight 2 (FS2) is a large language model fine-tuned on hospital data for modelling patient timelines (GitHub 'removed for anon'). It can understand patients' clinical notes and predict SNOMED codes for a wide range of biomedical use cases, including diagnosis suggestions, risk forecasting, and procedure and medication recommendations. FS2 is trained on the free text portion of the MIMIC-III dataset, firstly through extracting biomedical concepts and then creating contextualised patient timelines, upon which the model is then fine-tuned. The results show significant improvement over the previous state-of-the-art for the next new biomedical concept prediction (P/R - 0.73/0.66 vs 0.52/0.32) and a similar improvement specifically for the next new disorder prediction (P/R - 0.69/0.62 vs 0.46/0.25). Finally, on the task of risk forecast, we compare our model to GPT-4-turbo (and a range of open-source biomedical LLMs) and show that FS2 performs significantly better on such tasks (P@5 - 0.90 vs 0.65). This highlights the need to incorporate hospital data into LLMs and shows that small models outperform much larger ones when fine-tuned on high-quality, specialised data.

We introduce GENomic Encoding REpresentation with Language Model (GENEREL), a framework designed to bridge genetic and biomedical knowledge bases. What sets GENEREL apart is its ability to fine-tune language models to infuse biological knowledge behind clinical concepts such as diseases and medications. This fine-tuning enables the model to capture complex biomedical relationships more effectively, enriching the understanding of how genomic data connects to clinical outcomes. By constructing a unified embedding space for biomedical concepts and a wide range of common SNPs from sources such as patient-level data, biomedical knowledge graphs, and GWAS summaries, GENEREL aligns the embeddings of SNPs and clinical concepts through multi-task contrastive learning. This allows the model to adapt to diverse natural language representations of biomedical concepts while bypassing the limitations of traditional code mapping systems across different data sources. Our experiments demonstrate GENEREL's ability to effectively capture the nuanced relationships between SNPs and clinical concepts. GENEREL also emerges to discern the degree of relatedness, potentially allowing for a more refined identification of concepts. This pioneering approach in constructing a unified embedding system for both SNPs and biomedical concepts enhances the potential for data integration and discovery in biomedical research.

Linking (aligning) biomedical concepts across diverse data sources enables various integrative analyses, but it is challenging due to the discrepancies in concept naming conventions. Various strategies have been developed to overcome this challenge, such as those based on string-matching rules, manually crafted thesauri, and machine learning models. However, these methods are constrained by limited prior biomedical knowledge and can hardly generalize beyond the limited amounts of rules, thesauri, or training samples. Recently, large language models (LLMs) have exhibited impressive results in diverse biomedical NLP tasks due to their unprecedentedly rich prior knowledge and strong zero-shot prediction abilities. However, LLMs suffer from issues including high costs, limited context length, and unreliable predictions. In this research, we propose PromptLink, a novel biomedical concept linking framework that leverages LLMs. It first employs a biomedical-specialized pre-trained language model to generate candidate concepts that can fit in the LLM context windows. Then it utilizes an LLM to link concepts through two-stage prompts, where the first-stage prompt aims to elicit the biomedical prior knowledge from the LLM for the concept linking task and the second-stage prompt enforces the LLM to reflect on its own predictions to further enhance their reliability. Empirical results on the concept linking task between two EHR datasets and an external biomedical KG demonstrate the effectiveness of PromptLink. Furthermore, PromptLink is a generic framework without reliance on additional prior knowledge, context, or training data, making it well-suited for concept linking across various types of data sources. The source code is available at https://github.com/constantjxyz/PromptLink.

Despite their general capabilities, LLMs still struggle on biomedical NER tasks, which are difficult due to the presence of specialized terminology and lack of training data. In this work we set out to improve LLM performance on biomedical NER in limited data settings via a new knowledge augmentation approach which incorporates definitions of relevant concepts on-the-fly. During this process, to provide a test bed for knowledge augmentation, we perform a comprehensive exploration of prompting strategies. Our experiments show that definition augmentation is useful for both open source and closed LLMs. For example, it leads to a relative improvement of 15\% (on average) in GPT-4 performance (F1) across all (six) of our test datasets. We conduct extensive ablations and analyses to demonstrate that our performance improvements stem from adding relevant definitional knowledge. We find that careful prompting strategies also improve LLM performance, allowing them to outperform fine-tuned language models in few-shot settings. To facilitate future research in this direction, we release our code at https://github.com/allenai/beacon.

Accurately predicting drug-drug interactions (DDI) for emerging drugs, which offer possibilities for treating and alleviating diseases, with computational methods can improve patient care and contribute to efficient drug development. However, many existing computational methods require large amounts of known DDI information, which is scarce for emerging drugs. In this paper, we propose EmerGNN, a graph neural network (GNN) that can effectively predict interactions for emerging drugs by leveraging the rich information in biomedical networks. EmerGNN learns pairwise representations of drugs by extracting the paths between drug pairs, propagating information from one drug to the other, and incorporating the relevant biomedical concepts on the paths. The different edges on the biomedical network are weighted to indicate the relevance for the target DDI prediction. Overall, EmerGNN has higher accuracy than existing approaches in predicting interactions for emerging drugs and can identify the most relevant information on the biomedical network.

Biomedical research yields a wealth of information, much of which is only accessible through the literature. Consequently, literature search is an essential tool for building on prior knowledge in clinical and biomedical research. Although recent improvements in artificial intelligence have expanded functionality beyond keyword-based search, these advances may be unfamiliar to clinicians and researchers. In response, we present a survey of literature search tools tailored to both general and specific information needs in biomedicine, with the objective of helping readers efficiently fulfill their information needs. We first examine the widely used PubMed search engine, discussing recent improvements and continued challenges. We then describe literature search tools catering to five specific information needs: 1. Identifying high-quality clinical research for evidence-based medicine. 2. Retrieving gene-related information for precision medicine and genomics. 3. Searching by meaning, including natural language questions. 4. Locating related articles with literature recommendation. 5. Mining literature to discover associations between concepts such as diseases and genetic variants. Additionally, we cover practical considerations and best practices for choosing and using these tools. Finally, we provide a perspective on the future of literature search engines, considering recent breakthroughs in large language models such as ChatGPT. In summary, our survey provides a comprehensive view of biomedical literature search functionalities with 36 publicly available tools.

The biomedical field relies heavily on concept linking in various areas such as literature mining, graph alignment, information retrieval, question-answering, data, and knowledge integration. Although large language models (LLMs) have made significant strides in many natural language processing tasks, their effectiveness in biomedical concept mapping is yet to be fully explored. This research investigates a method that exploits the in-context learning (ICL) capabilities of large models for biomedical concept linking. The proposed approach adopts a two-stage retrieve-and-rank framework. Initially, biomedical concepts are embedded using language models, and then embedding similarity is utilized to retrieve the top candidates. These candidates' contextual information is subsequently incorporated into the prompt and processed by a large language model to re-rank the concepts. This approach achieved an accuracy of 90.% in BC5CDR disease entity normalization and 94.7% in chemical entity normalization, exhibiting a competitive performance relative to supervised learning methods. Further, it showed a significant improvement, with an over 20-point absolute increase in F1 score on an oncology matching dataset. Extensive qualitative assessments were conducted, and the benefits and potential shortcomings of using large language models within the biomedical domain were discussed. were discussed.

Background: More than 400,000 biomedical concepts and some of their relationships are contained in SnomedCT, a comprehensive biomedical ontology. However, their concept names are not always readily interpretable by non-experts, or patients looking at their own electronic health records (EHR). Clear definitions or descriptions in understandable language are often not available. Therefore, generating human-readable definitions for biomedical concepts might help make the information they encode more accessible and understandable to a wider public. Objective: In this article, we introduce the Automatic Glossary of Clinical Terminology (AGCT), a large-scale biomedical dictionary of clinical concepts generated using high-quality information extracted from the biomedical knowledge contained in SnomedCT. Methods: We generate a novel definition for every SnomedCT concept, after prompting the OpenAI Turbo model, a variant of GPT 3.5, using a high-quality verbalization of the SnomedCT relationships of the to-be-defined concept. A significant subset of the generated definitions was subsequently judged by NLP researchers with biomedical expertise on 5-point scales along the following three axes: factuality, insight, and fluency. Results: AGCT contains 422,070 computer-generated definitions for SnomedCT concepts, covering various domains such as diseases, procedures, drugs, and anatomy. The average length of the definitions is 49 words. The definitions were assigned average scores of over 4.5 out of 5 on all three axes, indicating a majority of factual, insightful, and fluent definitions. Conclusion: AGCT is a novel and valuable resource for biomedical tasks that require human-readable definitions for SnomedCT concepts. It can also serve as a base for developing robust biomedical retrieval models or other applications that leverage natural language understanding of biomedical knowledge.

Biomedical entity linking and event extraction are two crucial tasks to support text understanding and retrieval in the biomedical domain. These two tasks intrinsically benefit each other: entity linking disambiguates the biomedical concepts by referring to external knowledge bases and the domain knowledge further provides additional clues to understand and extract the biological processes, while event extraction identifies a key trigger and entities involved to describe each biological process which also captures the structural context to better disambiguate the biomedical entities. However, previous research typically solves these two tasks separately or in a pipeline, leading to error propagation. What's more, it's even more challenging to solve these two tasks together as there is no existing dataset that contains annotations for both tasks. To solve these challenges, we propose joint biomedical entity linking and event extraction by regarding the event structures and entity references in knowledge bases as latent variables and updating the two task-specific models in a hard Expectation-Maximization (EM) fashion: (1) predicting the missing variables for each partially annotated dataset based on the current two task-specific models, and (2) updating the parameters of each model on the corresponding pseudo completed dataset. Experimental results on two benchmark datasets: Genia 2011 for event extraction and BC4GO for entity linking, show that our joint framework significantly improves the model for each individual task and outperforms the strong baselines for both tasks. We will make the code and model checkpoints publicly available once the paper is accepted.

Background: Electronic Health Records hold detailed longitudinal information about each patient's health status and general clinical history, a large portion of which is stored within the unstructured text. Existing approaches focus mostly on structured data and a subset of single-domain outcomes. We explore how temporal modelling of patients from free text and structured data, using deep generative transformers can be used to forecast a wide range of future disorders, substances, procedures or findings. Methods: We present Foresight, a novel transformer-based pipeline that uses named entity recognition and linking tools to convert document text into structured, coded concepts, followed by providing probabilistic forecasts for future medical events such as disorders, substances, procedures and findings. We processed the entire free-text portion from three different hospital datasets totalling 811336 patients covering both physical and mental health. Findings: On tests in two UK hospitals (King's College Hospital, South London and Maudsley) and the US MIMIC-III dataset precision@10 0.68, 0.76 and 0.88 was achieved for forecasting the next disorder in a patient timeline, while precision@10 of 0.80, 0.81 and 0.91 was achieved for forecasting the next biomedical concept. Foresight was also validated on 34 synthetic patient timelines by five clinicians and achieved relevancy of 97% for the top forecasted candidate disorder. As a generative model, it can forecast follow-on biomedical concepts for as many steps as required. Interpretation: Foresight is a general-purpose model for biomedical concept modelling that can be used for real-world risk forecasting, virtual trials and clinical research to study the progression of disorders, simulate interventions and counterfactuals, and educational purposes.