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
Open accessPublished version of a preprint
Abstract
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.
AI snapshot
Written from the paper’s full text.
TL;DR
This paper overviews the 2019 n2c2/OHNLP family history extraction shared task, which used synthetic clinical narratives from Mayo Clinic to evaluate entity identification and relation extraction. It reports that relation extraction was more challenging than entity identification, with top F1 scores of 0.8745 for subtask 1 and 0.6810 for subtask 2.
Key findings
- 17 teams submitted 38 runs for subtask 1 (35 valid) and 9 teams submitted 21 runs for subtask 2 (20 valid); 41 teams from 7 countries signed up.
- For subtask 1, top systems were Harbin Institute of Technology (F1 0.8745), ezDI, Inc. (0.8225), and Medical University of South Carolina (0.8130).
- For subtask 2, top systems were Harbin Institute of Technology (F1 0.6810), ezDI, Inc. (0.6586), and University of Florida (0.6544).
- Interannotator agreement before deidentification was F1 0.8324 for subtask 1 and 0.7002 for subtask 2; common system errors involved co-reference resolution and false positives for observations beyond first- or second-degree relatives.
Methods
- The corpus was curated from randomly sampled Mayo Employee and Community Health notes, extracting “Family History” sections and excluding auto-generated semistructured text and sections combining social history with FH.
- Annotation used Anafora with 11 people involved; each document was annotated by 2 annotators from a 5-member team, with a senior coordinator adjudicating discrepancies.
- The released data set contained 99 training documents and 117 test documents; entities included family members, observations, age, and living status, with relations linking family members to observations and living status. Evaluation used standard precision, recall, and F1.
Limitations
- The paper states that common errors included co-reference resolution failures, annotation disagreements or annotator errors, and system false positives for observations outside first- or second-degree relatives.
- The paper states future work will include updated annotator training, more FH cases from different institutions, and additional entities and attributes.
- Evident from the text: the corpus is synthetic and manually deidentified with observations, family members, and ethnicities shuffled, so it should only be used for information extraction studies where clinical relevance of conditions is not required; annotation was limited to first- and second-degree blood relatives, excluding spouses.
Model-written summary. Check it against the paper before relying on it.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
9 of 22 cited sources checked · 4 supported · 0 flagged · accuracy not yet measured
- Premisenone given
The progress of applying NLP methods and resources to biomedical texts, including FH extraction, has been limited by difficulties in accessing shared tools and resources, partially caused by patient privacy and data confidentiality constraints.
“Although the application of NLP methods and resources to biomedical texts has received increasing attention [6-8], with methods for FH extraction [9-11], the progress has been limited by difficulties in accessing shared tools and resources, partially caused by patient privacy and data confidentiality constraints.”
Quote in the paperSubstantial claim3 of 6 sources checked- cites [6] source
Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measured - cites [7] source
Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measured - cites [8] source
Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measured - cites [9] Bill, R, 2014, AMIA Annu Symp Proc
- cites [10] source
- cites [11] Goryachev, Sergey, 2008, AMIA Annu Symp Proc
- Findingown data
For subtask 1, father, grandfather, grandmother, sister, mother, and aunt also had high F1 scores.
“Father, grandfather, grandmother, sister, mother, and aunt also had high F1 scores.”
Quote in the paperNot a substantial claim - Findingown data
For subtask 1, daughter yielded the optimal F1 score of 1.
“From the results shown in Table 6, we found that daughter yielded the optimal F1 score of 1.”
Quote in the paperNot a substantial claim - Findingown data
For subtask 1, ezDI, Inc. yielded the suboptimal performance.
“The optimal performance was achieved by Harbin Institute of Technology with an F1 score of 0.8745, and the suboptimal performance was yielded by the system built by ezDI, Inc.”
Quote in the paperNot a substantial claim - Findingnone given
For subtask 2, the system developed by Harbin Institute of Technology performed the best on relation extraction.
“The system developed by Harbin Institute of Technology performed the best on relation extraction.”
Quote in the paperNot a substantial claim
- Findingown data
For subtask 1, Harbin Institute of Technology achieved the optimal performance with an F1 score of 0.8745.
“The optimal performance was achieved by Harbin Institute of Technology with an F1 score of 0.8745, and the suboptimal performance was yielded by the system built by ezDI, Inc.”
Quote in the paperNot a substantial claim - Findingown data
There exist disagreements regarding inferred semantic meaning of a specific observation; for example, some annotators annotated "Struggled with math" and "keeping a job" as observations but some did not.
“There also exist some disagreements regarding inferred semantic meaning of a specific observation. For example, some annotators annotated “Struggled with math” and “keeping a job” as observations but some did not.”
Quote in the paperNot a substantial claim - Findingown data
Some systems incorrectly recognized a paternal cousin mention as the patient's cousin in an example where the cousin was not the patient's paternal cousin.
“However, some systems recognized such paternal cousin mention as the Leo’s cousin incorrectly.”
Quote in the paperNot a substantial claim - Findingown data
For detecting family member, the most common error was found in the step of co-reference resolution.
“For detecting family member, the most common error was found in the step of co-reference resolution.”
Quote in the paperNot a substantial claim - Findingnone given
Most of the typical errors made by the submitted systems are related to co-reference resolution.
“We also observed that most of the typical errors made by the submitted systems are related to co-reference resolution.”
Quote in the paperNot a substantial claim - Study design and conductcitation
The data set is manually deidentified with all patient-protected information, such as names, locations, and age above 89, removed according to the Safety Harbor guideline of HIPAA Privacy Rule.
“As part of the annotation process, the data set is manually deidentified with all the patient-protected information, such as names, locations, and age above 89, removed according to the Safety Harbor guideline of Health Insurance Portability and Accountability Act of 1996 (HIPAA) Privacy Rule [20].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [20] The HIPAA Privacy Rule2021-01-11https://www.hhs.gov/hipaa/for-professionals/privacy/index.html
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- Interpretationnone given
Errors in the entity extraction tasks will pass on to the relation extraction task, causing errors in predicting the observations and family member living status.
“We observed that errors in the entity extraction tasks will pass on to the relation extraction task, causing errors in predicting the observations and family member living status.”
Quote in the paperNot a substantial claim - Study design and conductnone given
In this task, the authors developed a corpus using deidentified FH data stored in Mayo Clinic.
“In this task, we have developed a corpus using deidentified FH data stored in Mayo Clinic.”
Quote in the paperSubstantial claim - Interpretationown data
System performances show that relation extraction from FH is a more challenging task when compared to entity identification task.
“System performances show that relation extraction from FH is a more challenging task when compared to entity identification task.”
Quote in the paperSubstantial claim
- Classified as probably not a substantial claim. 33
- May combine two claims. 13
- The quote only partly states this claim. 1
Probably not a substantial claim: may not pass S2 (checkable), S3 (load-bearing).
PremisecitationA successful system also needs to consider co-reference resolution, which could be considered a standalone task for NLP systems.
“A successful system also needs to consider co-reference resolution, which could be considered a standalone task for NLP systems [24].”
Quote in the paperNot a substantial claim1 of 1 sources checked- cites [24] source
The Introduction describes coreference resolution in electronic medical records as a distinct NLP challenge, and the Results evaluate systems on that task. This supports treating it as a standalone task, but the paper does not say that NLP systems generally need coreference resolution to succeed. (LLM, conf=0.82)
Experimental — accuracy not yet measured
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationThe OHNLP consortium has created multiple deidentified data sets for a couple of NLP tasks based on real clinical sentences.
“Leveraging the research in corpus analysis and deidentification, the Open Health Natural Language Processing (OHNLP) consortium has created multiple deidentified data sets for a couple of NLP tasks based on real clinical sentences [14-16].”
Quote in the paperNot a substantial claim2 of 3 sources checked- cites [14] source
- cites [15] source
The Introduction (p. 3) describes the authors’ creation of MedSTS from clinical sentences, and Data Collection (p. 5) says the sentences were deidentified. The paper describes a resource for one NLP task, semantic textual similarity, with an annotated subset; it does not establish that the OHNLP consortium created multiple datasets for multiple tasks. (LLM, conf=0.86)
Experimental — accuracy not yet measured - cites [16] LiuSMojaradMRWangYWangLShenFFuSLiuHOverview of the BioCreative/OHNLP 2018 Family History Extraction TaskProceedings of the BioCreative 2018 Workshop20182021-01-11https://www.researchgate.net/publication/327424806_Overview_of_the_BioCreativeOHNLP_2018_Family_History_Extraction_Task
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationFH and negation detection are listed as important attributes in clinical information extraction.
“FH and negation detection are listed as important attributes in clinical information extraction [4].”
Quote in the paperNot a substantial claim1 of 1 sources checked- cites [4] source
Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
PremisecitationAzab et al developed a data set and a baseline system consisting of narrative answers annotated with family histories from FH questionnaires, based on patient-provided information.
“For example, Azab et al [12] have developed a data set and a baseline system consisting of narrative answers annotated with family histories from FH questionnaires [12], which is based on patient-provided information.”
Quote in the paperNot a substantial claim1 of 1 sources checked- cites [12] AzabMDadianSNastaseVAnLMihalceaRTowards extracting medical family history from natural language interactions: A new data set and baselinesProceedings of the 2019 Conference on Empirical Methods in Natural Language Processing and the 9th International Joint Conference on Natural Language Processing (EMNLP-IJCNLP)20192019 Conference on Empirical Methods in Natural Language Processing and the 9th International Joint Conference on Natural Language Processing3–7 November, 2019Hong Kong, ChinaStroudsburg, PAAssociation for Computational Linguistics12551260 source
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationFrom previous studies on end-to-end relation extraction tasks, the performance in relation extraction tasks is lower than that in named entity recognition tasks.
“Second, from previous studies on end-to-end relation extraction tasks, the performance in relation extraction tasks is lower than that in named entity recognition tasks [22,23].”
Quote in the paperNot a substantial claim1 of 2 sources checked- cites [22] Segura-BedmarIMartínezPHerrero-ZazoMSemEval-2013 Task 9: extraction of drug-drug interactions from biomedical texts (DDIExtraction 2013)2013Joint Conference on Lexical and Computational Semantics (*SEM), Volume 2: Proceedings of the Seventh International Workshop on Semantic Evaluation (SemEval 2013)June 14-15, 2013Atlanta, GAStroudsburg, PAAssociation for Computational Linguistics341350
Not checked in the free run.
- cites [23] source
Probably not a substantial claim: may not pass S3 (load-bearing).
Findingown data41 teams from 7 countries signed up for the shared task.
“In summary, 41 teams from 7 countries signed up for this shared task; 17 teams submitted 38 systems for subtask 1 (35 of them were valid) and 9 teams submitted 21 systems (20 of them were valid) for subtask 2.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown dataFor subtask 1, son was not detected so well and had the lowest F1 score (0.5926).
“Son was not detected so well, and had the lowest F1 score (0.5926).”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
Findingown data9 teams submitted 21 systems for subtask 2, of which 20 were valid.
“In summary, 41 teams from 7 countries signed up for this shared task; 17 teams submitted 38 systems for subtask 1 (35 of them were valid) and 9 teams submitted 21 systems (20 of them were valid) for subtask 2.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
Findingown data17 teams submitted 38 systems for subtask 1, of which 35 were valid.
“In summary, 41 teams from 7 countries signed up for this shared task; 17 teams submitted 38 systems for subtask 1 (35 of them were valid) and 9 teams submitted 21 systems (20 of them were valid) for subtask 2.”
Quote in the paperNot a substantial claimClassified as probably not a substantial claim.
FindingreasoningThe clinical texts in the corpus focus on narrative patient FH information.
“As a result, the clinical texts in the corpus focus on narrative patient FH information.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown dataA total of 99 documents for training and 117 documents for testing were included in the released data set.
“A total of 99 documents for training and 117 documents for testing were included in the released data set.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown dataThe IAA between 2 annotators measured before the deidentification process in F1 scores was 0.8324 for subtask 1 and 0.7002 for subtask 2.
“The IAA between 2 annotators measured before the deidentification process in F1 scores was 0.8324 and 0.7002 for subtasks 1 and 2, respectively.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown dataRule-based approaches were used in some submissions with BERT and NLP techniques for relation extraction.
“In addition, rule-based approaches were used in some submissions with BERT and NLP techniques for relation extraction.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown dataFor subtask 2, the ensemble of BERT, deep learning architecture, and some other conventional machine learning algorithms are common strategies adopted by different teams.
“Similar to techniques used for subtask 1, we found that the ensemble of BERT, deep learning architecture, and some other conventional machine learning algorithms are common strategies adopted by different teams.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown dataSome annotators only selected the span to cover the word "suicide" but did not annotate "s", while others did.
“Similarly, taking “suicides” as an example, some annotators only selected the span to cover the word “suicide” but did not annotate “s,” but some other did.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown dataSome systems extracted sister as a correct mention but also extracted paternal aunt as a false-positive case.
“Some systems did extract sister as a correct mention, but paternal aunt was also extracted as a false-positive case.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
Findingown dataSome annotators selected the whole phrase as 1 annotation, while others only selected the span for "breast" and "cancer" but overlooked the space in between.
“Taking breast cancer as an example, some annotators selected the whole phrase as 1 annotation, but some others only selected the span for “breast” and “cancer” but overlooked the space in between.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown dataDeep learning architecture with pretrained embeddings was widely used by many teams.
“We also observed that deep learning architecture with pretrained embeddings was widely used by many teams.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown dataIn an example, Owen's son was diagnosed with Asperger syndrome and he has no blood relationship with the patient Leo, but some systems extracted Asperger syndrome as the observation incorrectly.
“In the first example above, Owen’s son was diagnosed with Asperger syndrome and he has no blood relationship with the patient Leo. But some systems extracted Asperger syndrome as the observation incorrectly.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingnone givenThe optimal F1 score for subtask 1 and subtask 2 is 0.8745 and 0.6810, respectively.
“The optimal F1 score for subtask 1 and subtask 2 is 0.8745 and 0.6810, respectively.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown dataFor subtask 2, fewer submissions were received than for subtask 1.
“For subtask 2, we received fewer submissions and the performance of top 5 systems are shown in Table 9.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingnone givenA wide variety of methods were used by different teams in both tasks, such as BERT, CNN, Bi-LSTM, CRF, SVM, and rule-based strategies.
“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.”
Quote in the paperNot a substantial claimMay combine two claims. The quote only partly states this claim.
Findingown dataFor observation, common mistakes can be roughly categorized into 2 groups: annotation disagreement or errors made by annotators, and errors made by participants' systems.
“For observation, we roughly categorized the common mistakes into 2 groups. The first group is related to annotation disagreement or errors made by annotators.”
Quote in the paperNot a substantial claimMay combine two claims.
Findingown dataMost errors made by participants' systems occurred due to false positives, indicating that those observations/conditions are beyond first or second degree.
“We observed that most of such errors occurred due to false positives, indicating that those observations/conditions are beyond first or second degree.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown data4 teams incorporated rule-based strategy into their systems for entity identification.
“Besides these, 4 teams incorporated rule-based strategy into their systems for entity identification.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Findingown dataMany teams used state-of-the-art NLP contextual neural language models in their systems, such as BERT and ELMo.
“We found that many teams used the state-of-the-art NLP contextual neural language models in their systems, such as Bidirectional Encoder Representations from Transformers (BERT) [25] and ELMo [26].”
Quote in the paperNot a substantial claim0 of 2 sources checked- cites [25] Devlin, J, ArXiv
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
- cites [26] Peters, ME, ArXiv
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Probably not a substantial claim: may not pass S3 (load-bearing).
Study design and conductown dataEach document in the corpus is annotated by 2 annotators.
“Each document is annotated by 2 annotators, and the whole annotation process is performed by a 5-member annotator team (see the “Acknowledgments” section).”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Study design and conductnone givenThe numeric fields such as dates and phone numbers are manually replaced with synthetic strings.
“The numeric fields such as dates and phone numbers are manually replaced with synthetic strings.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Study design and conductnone givenOne senior study coordinator worked as the adjudicator to resolve discrepancies between the 2 annotations.
“One senior study coordinator worked as the adjudicator to resolve discrepancies between the 2 annotations.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Study design and conductreasoningThe observations, family members, and ethnicities are shuffled among the whole corpus to further protect confidentiality.
“To further protect the confidentiality, the observations, family members, and ethnicities are also shuffled among the whole corpus.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationRisk assessment of hypertrophic cardiomyopathy considers 1 or more first-degree relatives with a history of sudden cardiac death under age 40 as a significant factor of sudden cardiac death risk in patients with hypertrophic cardiomyopathy.
“For example, the risk assessment of hypertrophic cardiomyopathy considers 1 or more first-degree relatives with a history of sudden cardiac death under age 40 as a significant factor of sudden cardiac death risk in patients with hypertrophic cardiomyopathy [3].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [3] source
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationThe Fast Healthcare Interoperability Resources has included FamilyMemberHistory as part of the clinical summary standard.
“The Fast Healthcare Interoperability Resources has also included FamilyMemberHistory as part of the clinical summary standard [13].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [13] source
Probably not a substantial claim: may not pass S3 (load-bearing).
PremisecitationFamily history captures shared genetic variations and environmental factors among family members.
“As the key element for precision medicine, family history (FH) captures shared genetic variations and environmental factors among family members [1,2].”
Quote in the paperNot a substantial claim0 of 2 sources checked- cites [1] source
- cites [2] McCarthy, JJ, 2016, Precision Medicine: A Guide to Genomics in Clinical Practice
Not checked in the free run.
Probably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
PremisecitationOne of the major sources of FH data is patient-provided information questionnaires, which are usually stored in a semistructured/unstructured format in electronic health records.
“One of the major sources of FH data is patient-provided information questionnaires, which are usually stored in a semistructured/unstructured format in electronic health records [5].”
Quote in the paperNot a substantial claim0 of 1 sources checked- cites [5] Wang, Y, 2017, AMIA Jt Summits Transl Sci Proc
Probably not a substantial claim: may not pass S3 (load-bearing).
Study design and conductnone givenThe patient notes used to curate the corpus were randomly sampled from the Mayo Employee and Community Health cohort.
“The patient notes we used to curate the corpus were randomly sampled from the Mayo Employee and Community Health cohort.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Interpretationnone givenThe corpus prepared along with the shared task has encouraged participants internationally to develop FH extraction systems for understanding clinical narratives.
“The corpus we prepared along with the shared task has encouraged participants internationally to develop FH extraction systems for understanding clinical narratives.”
Quote in the paperNot a substantial claimProbably not a substantial claim: may not pass S3 (load-bearing). May combine two claims.
Study design and conductown dataThe corpus was manually curated from FH sections of clinical notes at Mayo Clinic Rochester and is highly relevant to patients' FH.
“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.”
Quote in the paperNot a substantial claimClassified as probably not a substantial claim.
PremisereasoningAutomatically generated semistructured texts were excluded because methods for extracting information from auto-populated formats are significantly different from extracting information from clinical narratives written by human authors.
“Then, we have excluded automatically generated semistructured texts because we expected the methods for extracting information from auto-populated formats to be significantly different from extracting information from clinical narratives written by human authors, with the former requiring more engineering effort than NLP research.”
Quote in the paperSubstantial claimClassified as probably not a substantial claim.
PremisereasoningSections that combine patients' social history with the FH section were excluded because these have more descriptions of patients' personal social behavior instead of family members.
“We have also excluded sections that combine the patients’ social history with the FH section, as these have more descriptions of patients’ personal social behavior such as occupations and life styles instead of family members.”
Quote in the paperSubstantial claimProbably not a substantial claim: may not pass S3 (load-bearing).
Study design and conductnone givenAll the names that appeared in the above examples are synthetic.
“All the names that appeared in the above examples are synthetic.”
Quote in the paperNot a substantial claim
The paper relies on this without support.
The evaluation protocol of FH extraction systems has not been standardized.
“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.”
The paper relies on this without support.
It remains a challenge to acquire accurate and complete FH information from unstructured text via NLP methods.
“Although FH information was largely leveraged to assist the decision-making process of diagnosis and treatment in clinical settings, it remains a challenge to acquire accurate and complete FH information from unstructured text via natural language processing (NLP) methods.”
The paper relies on this without support.
The variety of FH elements makes the extraction process from unstructured data challenging.
“This variety of FH elements makes the extraction process from unstructured data challenging.”
The paper relies on this without support.
There is a need for NLP systems that are able to extract FH from the text.
“In order to provide comprehensive patient-provided FH data to physicians, there is a need for NLP systems that are able to extract FH from the text.”
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
Submission format describes similarity scores instead of extraction results
MinorThe participation section says every run contains a floating-point similarity score for each sentence pair, whereas the evaluation section requires extracted family-member and observation tuples for subtask 2.
“Each team can submit up to 3 runs for the testing data where each run should have 1 line for each sentence pair that provides the similarity score assigned by the system as a floating-point number.”
“For the observation extraction, the systems are asked to provide a tuple of (family member, side of family, observation).”
Subtask 1 maximum exceeds the stated optimal score
MinorTable 4 reports a maximum F1 of 0.8750, but the conclusion calls 0.8745 the optimal F1 for the same subtask. Both values are printed to four decimal places.
“| Max | 0.8750 |”
“The optimal F1 score for subtask 1 and subtask 2 is 0.8745 and 0.6810, respectively.”
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2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
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Clinical information extraction applications: A literature review
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Self-citationNatural Language Processing of Clinical Notes on Chronic Diseases: Systematic Review
Sheikhalishahi, S., Miotto, R., Dudley, J. T., Lavelli, A., Rinaldi, F., & Osmani, V. (2019) · JMIR Medical Informatics · doi:10.2196/12239 · Cited by 558 · see citing works
HL7 FHIR: An Agile and RESTful approach to healthcare information exchange
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The Family History — More Important Than Ever
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Clinical text data in machine learning: systematic review
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Evaluating the state of the art in coreference resolution for electronic medical records
Uzuner, O., Bodnari, A., Shen, S., Forbush, T., Pestian, J., & South, B. R. (2012) · Journal of the American Medical Informatics Association · doi:10.1136/amiajnl-2011-000784 · Cited by 164 · see citing works
MedSTS: a resource for clinical semantic textual similarity
Wang, Y., Afzal, N., Fu, S., Wang, L., Shen, F., Rastegar-Mojarad, M., & Liu, H. (2020) · Language Resources and Evaluation · doi:10.1007/s10579-018-9431-1 · Cited by 124 · see citing works
Self-citationLessons learnt from the DDIExtraction-2013 Shared Task
Segura-Bédmar, I., Martı́nez, P., & Herrero-Zazo, M. (2014) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2014.05.007 · Cited by 97 · see citing works
2014 ESC Guidelines on Diagnosis and Management of Hypertrophic Cardiomyopathy
Elliott, P. M., Anastasakis, A., Borger, M. A., Borggrefe, M., Cecchi, F., Charron, P., Hagege, A. A., Lafont, A., Limongelli, G., Mahrholdt, H., et al. (2015) · Revista Española de Cardiología (English Edition) · doi:10.1016/j.rec.2014.12.001 · Cited by 55 · see citing works
Anafora: A Web-based General Purpose Annotation Tool.
Chen, W.-T., & Styler, W. (2013) · PubMed · Cited by 51 · see citing works
Garcelon, N., Neuraz, A., Benoit, V., Salomon, R., & Burgun, A. (2017) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocw144 · Cited by 48 · see citing works
Identification and extraction of family history information from clinical reports.
(2008) · PubMed Central · Cited by 41 · see citing works
Automated extraction of family history information from clinical notes.
(2014) · PubMed Central · Cited by 35 · see citing works
Herold, R., & Beaver, K. (2014) · Auerbach Publications eBooks · doi:10.1201/b17548-8 · Cited by 21 · see citing works
Systematic Analysis of Free-Text Family History in Electronic Health Record.
(2017) · PubMed Central · Cited by 16 · see citing works
Self-citationGenome-wide association study identifies novel breast cancer susceptibility loci
SHULMAN, L. P. (2008) · Yearbook of Obstetrics Gynecology and Women s Health · doi:10.1016/s1090-798x(08)79098-2 · Cited by 10 · see citing works
Selected articles from the BioCreative/OHNLP challenge 2018
Liu, S., Wang, Y., & Liu, H. (2019) · BMC Medical Informatics and Decision Making · doi:10.1186/s12911-019-0994-6 · Cited by 10 · see citing works
Self-citationDependency Parsing for Extracting Family History
Lewis, N., Gruhl, D., & Yang, H. (2011) · 2011 IEEE First International Conference on Healthcare Informatics, Imaging and Systems Biology · doi:10.1109/hisb.2011.23 · Cited by 7 · see citing works
Azab, M., Dadian, S., Nastase, V., An, L., & Mihalcea, R. (2019) · Proceedings of the 2019 Conference on Empirical Methods in Natural Language Processing and the 9th International Joint Conference on Natural Language Processing (EMNLP-IJCNLP) · doi:10.18653/v1/d19-1122 · Cited by 5 · see citing works
Flagged first, then by citations
Research works printed but not linked: 9
- McCarthy, JJ, 2016, Precision Medicine: A Guide to Genomics in Clinical Practice
- Wang, Y, 2017, AMIA Jt Summits Transl Sci Proc, 2017, 104
- Bill, R, 2014, AMIA Annu Symp Proc, 2014, 1709
- Goryachev, Sergey, 2008, AMIA Annu Symp Proc, 247
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- Chen, Wei-Te, 2013, Proc Conf, 2013, 14
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Sorted by citations
Health Natural Language Processing: Methodology Development and Applications
Hao, T., Huang, Z., Liang, L., Weng, H., & Tang, B. (2021) · JMIR Medical Informatics · doi:10.2196/23898 · Cited by 48 · see citing works
A scoping review of publicly available language tasks in clinical natural language processing
Gao, Y., Dligach, D., Christensen, L., Tesch, S., Laffin, R., Xu, D., Miller, T., Uzuner, O., Churpek, M. M., & Afshar, M. (2022) · Journal of the American Medical Informatics Association · doi:10.1093/jamia/ocac127 · Cited by 28 · see citing works
“Inconsistencies in defining NLP tasks occurred with two papers [4, 5] that described phenotyping as an NER task and others [26, 35] described it as a document classi-fication task.”
BackgroundInfluentialRybinski, M., Dai, X., Singh, S., Karimi, S., & Nguyen, A. N. (2021) · JMIR Medical Informatics · doi:10.2196/24020 · Cited by 18 · see citing works
Shi, J., Morgan, K. L., Bradshaw, R. L., et al. (2022) · JMIR Medical Informatics · doi:10.2196/37842 · Cited by 12 · see citing works
“Previous studies have largely focused on extracting FHH from clinical notes [14,15].”
MethodGenomic formation of Tibeto-Burman speaking populations in Guizhou, Southwest China
Chen, J., Zhang, H., Yang, M., et al. (2023) · BMC Genomics · doi:10.1186/s12864-023-09767-7 · Cited by 9 · see citing works
“Many language families exist in EA, such as Sino-Tibetan, Austroasiatic, Hmong-Mien, Tai-Kadai, Austronesian, Indo-European, Turkic, Mongolic, Tun-gusic, Japonic, Koreanic, Yukaghiric, Chukotko-Kam-chatkan [1–5].”
Kim, Y.-J., Heider, P. M., Lally, I. R., & Meystre, S. M. (2021) · JMIR Medical Informatics · doi:10.2196/22797 · Cited by 8 · see citing works
Clift, K. E., Macklin‐Mantia, S. K., Barnhorst, M., Millares, L., King, Z., Agarwal, A., & Presutti, R. J. (2022) · Journal of Primary Care & Community Health · doi:10.1177/21501319211069756 · Cited by 7 · see citing works
Kumar, L. S., Routray, S., Prabu, A. V., et al. (2022) · Cluster Computing · doi:10.1007/s10586-022-03697-x · Cited by 6 · see citing works
A Qualitative Difference: Integrating Qualitative Data into Humanitarian Response Operations
Maitland, C. F., Martin, J.-L., Bravo, M. G. U., & Bertram, A. (2022) · International Conference on Information and Communication Technologies and Development (ICTD) · doi:10.1145/3572334.3572398 · Cited by 5 · see citing works
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Wang, L. L., Larki, N. R., Dobkin, J., Salgado, S. M., Ahmad, N. A., Kaplan, D. E., Yang, W., & Yang, Y. (2024) · Pancreas · doi:10.1097/mpa.0000000000002295 · Cited by 3 · see citing works
“30 In addition, while the family history would be a useful candidate predictor, it is not always , 31,32 and in the future after validation of these pipelines, we could include family history along with germline genetic risk for PC 33 as candidate predictors, as has previously been performed for…”
MethodUtilising NLP for Enhanced Clinical Text Mining
Katyan, D., Gulati, G., & Upreti, G. (2024) · International Conference on Applied Artificial Intelligence and Computing (ICAAIC) · doi:10.1109/icaaic60222.2024.10575794 · Cited by 2 · see citing works
“In [4] Shen F, Liu et Al’s purpose were to create a common evaluation methodology for systems that extract FH data from clinical narratives.”
BackgroundWang, L., He, H., Wen, A., Moon, S., Fu, S., Peterson, K. J., Ai, X., Liu, S., Kavuluru, R., & Liu, H. (2023) · JMIR Medical Informatics · doi:10.2196/48072 · Cited by 2 · see citing works
Self-citationFerrari, S., Negro, S., Celotto, F., Bao, Q. R., Madeo, G., Pulvirenti, A., & Spolverato, G. (2025) · Artificial Intelligence Surgery · doi:10.20517/ais.2025.65 · Cited by 1 · see citing works
Jang, E. H., Aguirre, J., Lee, S., et al. (2025) · JAMIA Open · doi:10.1093/jamiaopen/ooaf157 · Cited by 1 · see citing works
AGG: An Automated Genogram Generator by Discovering Information in Clinical Texts
García-Santa, N., & Cetina, K. (2023) · Lecture notes in computer science · doi:10.1007/978-3-031-26422-1_38
Devarakonda, M. V., Raja, K., & Xu, H. (2024) · Cognitive informatics in biomedicine and healthcare · doi:10.1007/978-3-031-55865-8_5
Ahmad, H. F., Sajid, J., Rasool, R. U., & Malik, A. W. (2025) · Cluster Computing · doi:10.1007/s10586-025-05793-0
Olex, A. L., Kim, K. N., Morgan, M., Lewis, A., de Araújo, J. A. P., Baslock, D. M., French, E., & Chartier, K. G. (2026) · doi:10.2196/preprints.111714
Natural Language Processing of Clinical Data
Lybarger, K., Uzuner, Ö., Ramachandran, G. K., Elyazori, H., Irbaz, M. S., & Karim, A. H. M. R. (2026) · Springer handbooks · doi:10.1007/978-3-031-92372-2_20
- Authors
- Shen, F., Liu, S., Fu, S., Wang, Y., Henry, S., Uzuner, O., & Liu, H.
- Affiliations
- Mayo Clinic (US)
- George Mason University (US)
- Corresponding author
- Shen, Feichen
- Venue
- JMIR Medical Informatics
- Publisher
- JMIR Publications Inc.
- Published
- 2021-01-27
- Volume
- 9
- Issue
- 1
- Pages
- e24008
- ISSN
- 2291-9694 (ISSN-L)
- PMC
- PMC7875692
- OpenAlex
- W3110873124
- Semantic Scholar
- 176fac7bcfa9c764b586295e7a8b8b5c8ba4c526
- Cited by
- 21
- References
- 22
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 3 · 2023: 3 · 2022: 5 · 2021: 5
- FWCI
- 0.90
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- JMIR Medical Informatics (publishedVersion, cc-by)
- PubMed (publishedVersion)
- PubMed Central (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- National Institutes of Health (4r01gm102282-04, 5u01tr002062-05)
- National Institute of General Medical Sciences (R01-GM102282)
- U.S. National Library of Medicine (R13 LM013127)
- National Center for Advancing Translational Sciences (U01TR02062, #U01TR002062)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Biomedical Text Mining and Ontologies
- Physical Sciences › Computer Science › Artificial Intelligence › Machine Learning in Healthcare
- Physical Sciences › Computer Science › Artificial Intelligence › Topic Modeling
- Keywords
- clinical text, synthetic health data, shared task, BioCreative
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Claims read by deepseek-v4.1-flash under definition version 3 (extract-v3) on 2026-10-27.
Classified by jev-1.13-20260917 (gold-guideline-v0.2) on 2026-10-27.
Cited sources are checked by gpt-6-sol.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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