A Learning Health Care System Using Computer-Aided Diagnosis

Physicians intuitively apply pattern recognition when evaluating a patient. Rational diagnosis making requires that clinical patterns be put in the context of disease prior probability, yet physicians often exhibit flawed probabilistic reasoning. Difficulties in making a diagnosis are reflected in the high rates of deadly and costly diagnostic errors. Introduced 6 decades ago, computerized diagnosis support systems are still not widely used by internists. These systems cannot efficiently recognize patterns and are unable to consider the base rate of potential diagnoses. We review the limitations of current computer-aided diagnosis support systems. We then portray future diagnosis support systems and provide a conceptual framework for their development. We argue for capturing physician knowledge using a novel knowledge representation model of the clinical picture. This model (based on structured patient presentation patterns) holds not only symptoms and signs but also their temporal and semantic interrelations. We call for the collection of crowdsourced, automatically deidentified, structured patient patterns as means to support distributed knowledge accumulation and maintenance. In this approach, each structured patient pattern adds to a self-growing and -maintaining knowledge base, sharing the experience of physicians worldwide. Besides supporting diagnosis by relating the symptoms and signs with the final diagnosis recorded, the collective pattern map can also provide disease base-rate estimates and real-time surveillance for early detection of outbreaks. We explain how health care in resource-limited settings can benefit from using this approach and how it can be applied to provide feedback-rich medical education for both students and practitioners.

[1]  Kevin R. Weaver,et al.  Differential Diagnosis Generators: an Evaluation of Currently Available Computer Programs , 2012, Journal of General Internal Medicine.

[2]  I. Kohane,et al.  Finding the missing link for big biomedical data. , 2014, JAMA.

[3]  D A Redelmeier,et al.  Probability judgement in medicine: discounting unspecified possibilities. , 1995, Medical decision making : an international journal of the Society for Medical Decision Making.

[4]  J G Dolan,et al.  An Eualuation of Clinicians' Subjective Prior Probability Estimates , 1986, Medical decision making : an international journal of the Society for Medical Decision Making.

[5]  R. Ledley,et al.  Reasoning foundations of medical diagnosis. , 1991, M.D. computing : computers in medical practice.

[6]  Sudeh Cheraghi-Sohi,et al.  The Effectiveness of Electronic Differential Diagnoses (DDX) Generators: A Systematic Review and Meta-Analysis , 2016, PloS one.

[7]  C J McDonald,et al.  Medical Heuristics: The Silent Adjudicators of Clinical Practice , 1996, Annals of Internal Medicine.

[8]  O Manor,et al.  Probabilistic reasoning and clinical decision-making: do doctors overestimate diagnostic probabilities? , 2003, QJM : monthly journal of the Association of Physicians.

[9]  M. Graber,et al.  Performance of a Web-Based Clinical Diagnosis Support System for Internists , 2007, Journal of General Internal Medicine.

[10]  Peter J. Haug,et al.  ILIAD as an Expert Consultant to Teach Differential Diagnosis , 1988 .

[11]  D. Kahneman,et al.  Conditions for intuitive expertise: a failure to disagree. , 2009, The American psychologist.

[12]  J. Myers,et al.  The INTERNIST-1/QUICK MEDICAL REFERENCE project--status report. , 1986, The Western journal of medicine.

[13]  B. Miller,et al.  Improving Diagnosis in Health Care. , 2016, Military medicine.

[14]  MSHS Constance H. Fung MD,et al.  Computerized condition-specific templates for improving care of geriatric syndromes in a primary care setting , 2007, Journal of General Internal Medicine.

[15]  G. Octo Barnett,et al.  DXplain on the Internet , 1998, AMIA.

[16]  M. Levitt,et al.  Pretest probability estimates: a pitfall to the clinical utility of evidence-based medicine? , 2004, Academic emergency medicine : official journal of the Society for Academic Emergency Medicine.

[17]  John S. Brownstein,et al.  Wikipedia Usage Estimates Prevalence of Influenza-Like Illness in the United States in Near Real-Time , 2014, PLoS Comput. Biol..

[18]  J. Wallach Wallach's Interpretation of Diagnostic Tests , 2012 .

[19]  B. Shirts,et al.  A bayesian approach to laboratory utilization management , 2015, Journal of pathology informatics.

[20]  J. Stockman,et al.  Googling for a diagnosis—use of Google as a diagnostic aid: internet based study , 2008 .

[21]  Randolph A. Miller,et al.  Review: Medical Diagnostic Decision Support Systems - Past, Present, And Future: A Threaded Bibliography and Brief Commentary , 1994, J. Am. Medical Informatics Assoc..

[22]  Patrick B. Ryan,et al.  Evaluation of alternative standardized terminologies for medical conditions within a network of observational healthcare databases , 2012, J. Biomed. Informatics.

[23]  A. Tversky,et al.  Judgment under Uncertainty: Heuristics and Biases , 1974, Science.

[24]  H. E. Pople,et al.  Internist-1, an experimental computer-based diagnostic consultant for general internal medicine. , 1982, The New England journal of medicine.

[25]  Robert El-Kareh,et al.  Use of health information technology to reduce diagnostic errors , 2013, BMJ quality & safety.

[26]  Sourmitra Dutta,et al.  Temporal reasoning in medical expert systems , 1988, Proceedings of the Symposium on the Engineering of Computer-Based Medical.

[27]  R A Miller,et al.  50 Years of Informatics Research on Decision Support: What’s Next , 2011, Methods of Information in Medicine.

[28]  H. R. Warner,et al.  The HELP system , 1982, Journal of Medical Systems.

[29]  Yaron Denekamp,et al.  A Clinical Problem-oriented Decision Support Model Based on Extended Temporal Database Functionalities , 2005, AMIA.

[30]  Emily Vardell,et al.  Isabel, a Clinical Decision Support System , 2011, Medical reference services quarterly.

[31]  R S LEDLEY,et al.  The role of computers in medical diagnosis. , 1961, Medizinische Dokumentation.

[32]  J. Archer,et al.  State of the science in health professional education: effective feedback , 2010, Medical education.

[33]  Yu-Chuan Li,et al.  Observational Health Data Sciences and Informatics (OHDSI): Opportunities for Observational Researchers , 2015, MedInfo.

[34]  H. Mcdonald,et al.  Effects of computerized clinical decision support systems on practitioner performance and patient outcomes: a systematic review. , 2005, JAMA.

[35]  Randolph A Miller,et al.  Computer-assisted diagnostic decision support: history, challenges, and possible paths forward , 2009, Advances in health sciences education : theory and practice.

[36]  Paola Velardi,et al.  Twitter mining for fine-grained syndromic surveillance , 2014, Artif. Intell. Medicine.

[37]  G. Harrell ROCKY MOUNTAIN SPOTTED FEVER , 1949, Medicine.

[38]  R S LEDLEY,et al.  Reasoning foundations of medical diagnosis; symbolic logic, probability, and value theory aid our understanding of how physicians reason. , 1959, Science.

[39]  G A Gorry,et al.  Sequential diagnosis by computer. , 2015, JAMA.

[40]  Ledley Rs,et al.  The role of computers in medical diagnosis. , 1961 .

[41]  Y Shahar,et al.  Time-oriented Clinical Information Systems Time-oriented Clinical Information Systems * , 1997 .

[42]  M. F. Craig A. Umscheid MD,et al.  A Follow-Up Report Card on Computer-Assisted Diagnosis—the Grade: C+ , 2011, Journal of General Internal Medicine.

[43]  A. Halkin,et al.  Likelihood ratios: getting diagnostic testing into perspective. , 1998, QJM : monthly journal of the Association of Physicians.

[44]  Hangwi Tang,et al.  Googling for a diagnosis—use of Google as a diagnostic aid: internet based study , 2006, BMJ : British Medical Journal.

[45]  C. Gidengil,et al.  Evaluation of symptom checkers for self diagnosis and triage: audit study , 2015, BMJ : British Medical Journal.

[46]  A. L. Baker,et al.  Performance of four computer-based diagnostic systems. , 1994, The New England journal of medicine.

[47]  S. A. Berger,et al.  GIDEON: a computer program for diagnosis, simulation, and informatics in the fields of geographic medicine and emerging diseases. , 2001, Emerging infectious diseases.

[48]  J. Kassirer,et al.  The threshold approach to clinical decision making. , 1980, The New England journal of medicine.

[49]  Deborah Lupton,et al.  'It's like having a physician in your pocket!' A critical analysis of self-diagnosis smartphone apps. , 2015, Social science & medicine.

[50]  Donna M. Muzny,et al.  Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation , 2017, The New England journal of medicine.

[51]  H. E. Pople,et al.  Internist-I, an Experimental Computer-Based Diagnostic Consultant for General Internal Medicine , 1982 .