Using Machine Learning and Natural Language Processing to Review and Classify the Medical Literature on Cancer Susceptibility Genes

PURPOSE: The medical literature relevant to germline genetics is growing exponentially. Clinicians need tools monitoring and prioritizing the literature to understand the clinical implications of the pathogenic genetic variants. We developed and evaluated two machine learning models to classify abstracts as relevant to the penetrance (risk of cancer for germline mutation carriers) or prevalence of germline genetic mutations. METHODS: We conducted literature searches in PubMed and retrieved paper titles and abstracts to create an annotated dataset for training and evaluating the two machine learning classification models. Our first model is a support vector machine (SVM) which learns a linear decision rule based on the bag-of-ngrams representation of each title and abstract. Our second model is a convolutional neural network (CNN) which learns a complex nonlinear decision rule based on the raw title and abstract. We evaluated the performance of the two models on the classification of papers as relevant to penetrance or prevalence. RESULTS: For penetrance classification, we annotated 3740 paper titles and abstracts and used 60% for training the model, 20% for tuning the model, and 20% for evaluating the model. The SVM model achieves 89.53% accuracy (percentage of papers that were correctly classified) while the CNN model achieves 88.95 % accuracy. For prevalence classification, we annotated 3753 paper titles and abstracts. The SVM model achieves 89.14% accuracy while the CNN model achieves 89.13 % accuracy. CONCLUSION: Our models achieve high accuracy in classifying abstracts as relevant to penetrance or prevalence. By facilitating literature review, this tool could help clinicians and researchers keep abreast of the burgeoning knowledge of gene-cancer associations and keep the knowledge bases for clinical decision support tools up to date

Machine learning and natural language processing (NLP) approach to predict early progression to first-line treatment in real-world hormone receptor-positive (HRþ)/HER2-negative advanced breast cancer patients.

Este artículo ha sido publicado en la revista European Journal of Cancer. Esta versión tiene Licencia Creative Commons CC-BY-NC-NDBackground: CDK4/6 inhibitors plus endocrine therapies are the current standard of care in the first-line treatment of HRþ/HER2-negative metastatic breast cancer, but there are no well-established clinical or molecular predictive factors for patient response. In the era of personalised oncology, new approaches for developing predictive models of response are needed. Materials and methods: Data derived from the electronic health records (EHRs) of real-world patients with HRþ/HER2-negative advanced breast cancer were used to develop predictive models for early and late progression to first-line treatment. Two machine learning approaches were used: a classic approach using a data set of manually extracted features from reviewed (EHR) patients, and a second approach using natural language processing (NLP) of freetext clinical notes recorded during medical visits. Results: Of the 610 patients included, there were 473 (77.5%) progressions to first-line treatment, of which 126 (20.6%) occurred within the first 6 months. There were 152 patients (24.9%) who showed no disease progression before 28 months from the onset of first-line treatment. The best predictive model for early progression using the manually extracted dataset achieved an area under the curve (AUC) of 0.734 (95% CI 0.687e0.782). Using the NLP free-text processing approach, the best model obtained an AUC of 0.758 (95% CI 0.714 e0.800). The best model to predict long responders using manually extracted data obtained an AUC of 0.669 (95% CI 0.608e0.730). With NLP free-text processing, the best model attained an AUC of 0.752 (95% CI 0.705e0.799). Conclusions: Using machine learning methods, we developed predictive models for early and late progression to first-line treatment of HRþ/HER2-negative metastatic breast cancer, also finding that NLP-based machine learning models are slightly better than predictive models based on manually obtained data

Machine learning algorithms to predict breast cancer recurrence using structured and unstructured sources from electronic health records

Recurrence is a critical aspect of breast cancer (BC) that is inexorably tied to mortality. Reuse of healthcare data through Machine Learning (ML) algorithms offers great opportunities to improve the stratification of patients at risk of cancer recurrence. We hypothesized that combining features from structured and unstructured sources would provide better prediction results for 5-year cancer recurrence than either source alone. We collected and preprocessed clinical data from a cohort of BC patients, resulting in 823 valid subjects for analysis. We derived three sets of features: structured information, features from free text, and a combination of both. We evaluated the performance of five ML algorithms to predict 5-year cancer recurrence and selected the best-performing to test our hypothesis. The XGB (eXtreme Gradient Boosting) model yielded the best performance among the five evaluated algorithms, with precision = 0.900, recall = 0.907, F1-score = 0.897, and area under the receiver operating characteristic AUROC = 0.807. The best prediction results were achieved with the structured dataset, followed by the unstructured dataset, while the combined dataset achieved the poorest performance. ML algorithms for BC recurrence prediction are valuable tools to improve patient risk stratification, help with post-cancer monitoring, and plan more effective follow-up. Structured data provides the best results when fed to ML algorithms. However, an approach based on natural language processing offers comparable results while potentially requiring less mapping effort.European Union | Ref. 875406Fondo Europeo de Desarrollo Regional (FEDER)Xunta de Galici

Specialized Named Entity Recognition For Breast Cancer Subtyping

The amount of data and analysis being published and archived in the biomedical research community is more than can feasibly be sifted through manually, which limits the information an individual or small group can synthesize and integrate into their own research. This presents an opportunity for using automated methods, including Natural Language Processing (NLP), to extract important information from text on various topics. Named Entity Recognition (NER), is one way to automate knowledge extraction of raw text. NER is defined as the task of identifying named entities from text using labels such as people, dates, locations, diseases, and proteins. There are several NLP tools that are designed for entity recognition, but rely on large established corpus for training data. Biomedical research has the potential to guide diagnostic and therapeutic decisions, yet the overwhelming density of publications acts as a barrier to getting these results into a clinical setting. An exceptional example of this is the field of breast cancer biology where over 2 million people are diagnosed worldwide every year and billions of dollars are spent on research. Breast cancer biology literature and research relies on a highly specific domain with unique language and vocabulary, and therefore requires specialized NLP tools which can generate biologically meaningful results. This thesis presents a novel annotation tool, that is optimized for quickly creating training data for spaCy pipelines as well as exploring the viability of said data for analyzing papers with automated processing. Custom pipelines trained on these annotations are shown to be able to recognize custom entities at levels comparable to large corpus based recognition

Natural Language Processing of Clinical Notes on Chronic Diseases: Systematic Review

Novel approaches that complement and go beyond evidence-based medicine are required in the domain of chronic diseases, given the growing incidence of such conditions on the worldwide population. A promising avenue is the secondary use of electronic health records (EHRs), where patient data are analyzed to conduct clinical and translational research. Methods based on machine learning to process EHRs are resulting in improved understanding of patient clinical trajectories and chronic disease risk prediction, creating a unique opportunity to derive previously unknown clinical insights. However, a wealth of clinical histories remains locked behind clinical narratives in free-form text. Consequently, unlocking the full potential of EHR data is contingent on the development of natural language processing (NLP) methods to automatically transform clinical text into structured clinical data that can guide clinical decisions and potentially delay or prevent disease onset