Family history extraction from synthetic clinical narratives using natural language processing: Overview and evaluation of a challenge data set and solutions for the 2019 national NLP clinical challenges (n2c2)/open health natural language processing (OHNLP) competition

Background: As a risk factor for many diseases, family history (FH) captures both shared genetic variations and living environments among family members. Though there are several systems focusing on FH extraction using natural language processing (NLP) techniques, the evaluation protocol of such systems has not been standardized. Objective: The n2c2/OHNLP (National NLP Clinical Challenges/Open Health Natural Language Processing) 2019 FH extraction task aims to encourage the community efforts on a standard evaluation and system development on FH extraction from synthetic clinical narratives. Methods: We organized the first BioCreative/OHNLP FH extraction shared task in 2018. We continued the shared task in 2019 in collaboration with the n2c2 and OHNLP consortium, and organized the 2019 n2c2/OHNLP FH extraction track. The shared task comprises 2 subtasks. Subtask 1 focuses on identifying family member entities and clinical observations (diseases), and subtask 2 expects the association of the living status, side of the family, and clinical observations with family members to be extracted. Subtask 2 is an end-to-end task which is based on the result of subtask 1. We manually curated the first deidentified clinical narrative from FH sections of clinical notes at Mayo Clinic Rochester, the content of which is highly relevant to patients' FH. Results: A total of 17 teams from all over the world participated in the n2c2/OHNLP FH extraction shared task, where 38 runs were submitted for subtask 1 and 21 runs were submitted for subtask 2. For subtask 1, the top 3 runs were generated by Harbin Institute of Technology, ezDI, Inc., and The Medical University of South Carolina with F1 scores of 0.8745, 0.8225, and 0.8130, respectively. For subtask 2, the top 3 runs were from Harbin Institute of Technology, ezDI, Inc., and University of Florida with F1 scores of 0.681, 0.6586, and 0.6544, respectively. The workshop was held in conjunction with the AMIA 2019 Fall Symposium. Conclusions: A wide variety of methods were used by different teams in both tasks, such as Bidirectional Encoder Representations from Transformers, convolutional neural network, bidirectional long short-term memory, conditional random field, support vector machine, and rule-based strategies. System performances show that relation extraction from FH is a more challenging task when compared to entity identification task.