Mining and Visualizing Family History Associations in the Electronic Health Record: A Case Study for Pediatric Asthma

Asthma is the most common chronic childhood disease and has seen increasing prevalence worldwide. While there is existing evidence of familial and other risk factors for pediatric asthma, there is a need for further studies to explore and understand interactions among these risk factors. The goal of this study was to develop an approach for mining, visualizing, and evaluating association rules representing pairwise interactions among potential familial risk factors based on information documented as part of a patient's family history in the electronic health record. As a case study, 10,260 structured family history entries for a cohort of 1,531 pediatric asthma patients were extracted and analyzed to generate family history associations at different levels of granularity. The preliminary results highlight the potential of this approach for validating known knowledge and suggesting opportunities for further investigation that may contribute to improving prediction of asthma risk in children.

[1]  Benjamin Littenberg,et al.  Exploring Generalized Association Rule Mining for Disease Co-Occurrences , 2012, AMIA.

[2]  N. Adler,et al.  Patients in context--EHR capture of social and behavioral determinants of health. , 2015, The New England journal of medicine.

[3]  B. Dikici,et al.  Parental history of migraine and bronchial asthma in children. , 2000, Allergologia et immunopathologia.

[4]  S. Brunak,et al.  Mining electronic health records: towards better research applications and clinical care , 2012, Nature Reviews Genetics.

[5]  Elizabeth S. Chen,et al.  A multi-site content analysis of social history information in clinical notes. , 2011, AMIA ... Annual Symposium proceedings. AMIA Symposium.

[6]  Jaideep Srivastava,et al.  Selecting the right interestingness measure for association patterns , 2002, KDD.

[7]  Abdulbari Bener,et al.  Genetics and environmental risk factors associated with asthma in schoolchildren. , 2005, European annals of allergy and clinical immunology.

[8]  S. Szefler,et al.  Advances in pediatric asthma 2006. , 2007, The Journal of allergy and clinical immunology.

[9]  S. Szefler,et al.  Advances in pediatric asthma in 2014: Moving toward a population health perspective. , 2015, The Journal of allergy and clinical immunology.

[10]  K. Beswick,et al.  CHILDHOOD ASTHMA , 1983, The Lancet.

[11]  Joachim Heinrich,et al.  Otitis Media in Infancy and the Development of Asthma and Atopic Disease , 2012, Current Allergy and Asthma Reports.

[12]  Alan R. Aronson,et al.  An overview of MetaMap: historical perspective and recent advances , 2010, J. Am. Medical Informatics Assoc..

[13]  M. Wjst,et al.  Genetic risk for asthma, allergic rhinitis, and atopic dermatitis. , 1992, Archives of disease in childhood.

[14]  L. Boulet,et al.  Asthma-related comorbidities , 2011, Expert review of respiratory medicine.

[15]  Joshua C. Denny,et al.  Chapter 13: Mining Electronic Health Records in the Genomics Era , 2012, PLoS Comput. Biol..

[16]  David A. Hanauer,et al.  Exploring Clinical Associations Using ‘-Omics’ Based Enrichment Analyses , 2009, PloS one.

[17]  A. Rudolph,et al.  Rudolph's Pediatrics , 1969 .

[18]  Kim Woo Kyung Family History as a Predictor of Asthma Risk , 2005 .

[19]  Kurt Hornik,et al.  Introduction to arules – A computational environment for mining association rules and frequent item sets , 2009 .

[20]  Guodong Ding,et al.  Risk and protective factors for the development of childhood asthma. , 2015, Paediatric respiratory reviews.

[21]  Olivier Bodenreider,et al.  The Unified Medical Language System (UMLS): integrating biomedical terminology , 2004, Nucleic Acids Res..

[22]  George Hripcsak,et al.  Automated acquisition of disease drug knowledge from biomedical and clinical documents: an initial study. , 2008, Journal of the American Medical Informatics Association : JAMIA.

[23]  L. Ohno-Machado,et al.  “Big Data” and the Electronic Health Record , 2014, Yearbook of Medical Informatics.

[24]  Serguei V. S. Pakhomov,et al.  Evaluation of family history information within clinical documents and adequacy of HL7 clinical statement and clinical genomics family history models for its representation: a case report , 2010, J. Am. Medical Informatics Assoc..

[25]  Mathieu Bastian,et al.  Gephi: An Open Source Software for Exploring and Manipulating Networks , 2009, ICWSM.

[26]  Adam Wright,et al.  An automated technique for identifying associations between medications, laboratory results and problems , 2010, J. Biomed. Informatics.

[27]  N. Papadopoulos,et al.  Diagnosis and treatment of asthma in childhood: a PRACTALL consensus report , 2007, Allergy.

[28]  Clement J. McDonald,et al.  Using A Natural Language Processing System to Extract and Code Family History Data from Admission Reports , 2006, AMIA.

[29]  Naren Ramakrishnan,et al.  Applying MetaMap to Medline for identifying novel associations in a large clinical dataset: a feasibility analysis , 2014, J. Am. Medical Informatics Assoc..

[30]  Lora J Stewart,et al.  Pediatric asthma. , 2008, Primary care.

[31]  Genevieve B. Melton,et al.  Social and Behavioral History Information in Public Health Datasets , 2012, AMIA.

[32]  M. Ege,et al.  The asthma epidemic. , 2006, The New England journal of medicine.

[33]  M. Sears,et al.  Asthma: epidemiology, etiology and risk factors , 2009, Canadian Medical Association Journal.

[34]  Elizabeth S. Chen,et al.  PubMedMiner: Mining and Visualizing MeSH-based Associations in PubMed , 2014, AMIA.

[35]  Hyeon-Eui Kim,et al.  Identification and Extraction of Family History Information from Clinical Reports , 2008, AMIA.

[36]  Elizabeth S. Chen,et al.  Mining the electronic health record for disease knowledge. , 2014, Methods in molecular biology.

[37]  H. Zar,et al.  International consensus on (ICON) pediatric asthma , 2012, Allergy.

[38]  Marylyn D. Ritchie,et al.  PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations , 2010, Bioinform..

[39]  Gregory Piatetsky-Shapiro,et al.  The KDD process for extracting useful knowledge from volumes of data , 1996, CACM.

[40]  Robert Bill,et al.  Automated Extraction of Family History Information from Clinical Notes , 2014, AMIA.

[41]  Ramakrishnan Srikant,et al.  Fast Algorithms for Mining Association Rules in Large Databases , 1994, VLDB.

[42]  Christopher J. Vitale,et al.  Representation of Information about Family Relatives as Structured Data in Electronic Health Records , 2014, Applied Clinical Informatics.

[43]  Elizabeth S. Chen,et al.  Determining Compound Comorbidities for Heart Failure from Hospital Discharge Data , 2012, AMIA.

[44]  Christopher P. Landrigan,et al.  Comprehensive pediatric hospital medicine , 2007 .

[45]  Yukiko Iino,et al.  Bone Conduction Hearing Level in Patients With Eosinophilic Otitis Media Associated With Bronchial Asthma , 2008, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

[46]  Gail Davey,et al.  Association between migraine and asthma: matched case-control study. , 2002, The British journal of general practice : the journal of the Royal College of General Practitioners.

[47]  Genevieve B. Melton,et al.  Characterizing the Use and Contents of Free-Text Family History Comments in the Electronic Health Record , 2012, AMIA.

[48]  Genevieve B. Melton,et al.  Multi-source development of an integrated model for family health history , 2015, J. Am. Medical Informatics Assoc..

[49]  HippJochen,et al.  Algorithms for association rule mining a general survey and comparison , 2000 .

[50]  T N Wang,et al.  Familial Risk of Asthma Among Adolescents and Their Relatives in Taiwan , 2001, The Journal of asthma : official journal of the Association for the Care of Asthma.

[51]  J. Castro‐Rodriguez,et al.  The Asthma Predictive Index: a very useful tool for predicting asthma in young children. , 2010, The Journal of allergy and clinical immunology.

[52]  Søren Brunak,et al.  Using Electronic Patient Records to Discover Disease Correlations and Stratify Patient Cohorts , 2011, PLoS Comput. Biol..

[53]  Robert Hoyt,et al.  Digital family histories for data mining. , 2013, Perspectives in health information management.

[54]  Wynne Hsu,et al.  Mining association rules with multiple minimum supports , 1999, KDD '99.

[55]  W. GREGORY FEERO,et al.  Position Paper: New Standards and Enhanced Utility for Family Health History Information in the Electronic Health Record: An Update from the American Health Information Community's Family Health History Multi-Stakeholder Workgroup , 2008, J. Am. Medical Informatics Assoc..