Computer-Based Diagnostic Expert Systems in Rheumatology: Where Do We Stand in 2014?

Background. The early detection of rheumatic diseases and the treatment to target have become of utmost importance to control the disease and improve its prognosis. However, establishing a diagnosis in early stages is challenging as many diseases initially present with similar symptoms and signs. Expert systems are computer programs designed to support the human decision making and have been developed in almost every field of medicine. Methods. This review focuses on the developments in the field of rheumatology to give a comprehensive insight. Medline, Embase, and Cochrane Library were searched. Results. Reports of 25 expert systems with different design and field of application were found. The performance of 19 of the identified expert systems was evaluated. The proportion of correctly diagnosed cases was between 43.1 and 99.9%. Sensitivity and specificity ranged from 62 to 100 and 88 to 98%, respectively. Conclusions. Promising diagnostic expert systems with moderate to excellent performance were identified. The validation process was in general underappreciated. None of the systems, however, seemed to have succeeded in daily practice. This review identifies optimal characteristics to increase the survival rate of expert systems and may serve as valuable information for future developments in the field.

[1]  A. Hirshberg,et al.  Data-source Effects on the Sensitivities and Specificities of Clinical Features in the Diagnosis of Rheumatoid Arthritis , 1992, Medical decision making : an international journal of the Society for Medical Decision Making.

[2]  Josep Puyol-Gruart,et al.  Renoir, Pneumon-IA and Terap-IA: three medical applications based on fuzzy logic , 2001, Artif. Intell. Medicine.

[3]  L. Kingsland,et al.  The AI/RHEUM knowledge-based computer consultant system in rheumatology. Performance in the diagnosis of 59 connective tissue disease patients from Japan. , 1988, Arthritis and rheumatism.

[4]  H J Moens,et al.  Development and validation of a computer program using Bayes's theorem to support diagnosis of rheumatic disorders. , 1992, Annals of the rheumatic diseases.

[5]  Klaus-Peter Adlassnig,et al.  Problems in establishing the medical expert systems CADIAG-1 and CADIAG-2 in rheumatology , 2004, Journal of Medical Systems.

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

[7]  Shu-Hsien Liao,et al.  Expert system methodologies and applications - a decade review from 1995 to 2004 , 2005, Expert Syst. Appl..

[8]  Mark C. Genovese,et al.  Computer-Assisted Pattern Recognition of Autoantibody Results , 2005, Clinical Diagnostic Laboratory Immunology.

[9]  M L Astion,et al.  Neural networks as expert systems in rheumatic disease diagnosis: artificial intelligence or intelligent artifice? , 1993, The Journal of rheumatology.

[10]  A mathematical model that improves the validity of osteoarthritis diagnoses obtained from a computerized diagnostic database. , 1996, Journal of clinical epidemiology.

[11]  K. Adlassnig,et al.  CADIAG: approaches to computer-assisted medical diagnosis. , 1985, Computers in biology and medicine.

[12]  Fernando Mendes de Azevedo,et al.  Connectionist expert systems as medical decision aid , 1993, Artif. Intell. Medicine.

[13]  J. Robson,et al.  Measurement of depth of anaesthesia. , 1969, British journal of anaesthesia.

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

[15]  C. K. Lim,et al.  A proposed hierarchical fuzzy inference system for the diagnosis of arthritic diseases , 2002, Australasian Physics & Engineering Sciences in Medicine.

[16]  S Dzeroski,et al.  Rule induction and instance-based learning applied in medical diagnosis. , 1996, Technology and health care : official journal of the European Society for Engineering and Medicine.

[17]  E. Balas,et al.  Improving clinical practice using clinical decision support systems: a systematic review of trials to identify features critical to success , 2005, BMJ : British Medical Journal.

[18]  D. Moher,et al.  Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. , 2010, International journal of surgery.

[19]  Gerhard Widmer,et al.  Automatic knowledge base refinement: learning from examples and deep knowledge in rheumatology , 1993, Artif. Intell. Medicine.

[20]  Babita Pandey,et al.  Knowledge and intelligent computing system in medicine , 2009, Comput. Biol. Medicine.

[21]  Kaplan Rs AI/Consult: a prototype directed history system based upon the AI/Rheum knowledge base. , 1991 .

[22]  S. Schewe,et al.  Prospective application of an expert system for the medical history of joint pain , 1990, Klinische Wochenschrift.

[23]  H J Moens,et al.  Computer-assisted diagnosis of rheumatic disorders. , 1991, Seminars in arthritis and rheumatism.

[24]  Maria L. Gini,et al.  A serial model for computer assisted medical diagnosis. , 1980, International journal of bio-medical computing.

[25]  H J Bernelot Moens,et al.  Comparison of rheumatological diagnoses by a Bayesian program and by physicians. , 1991, Methods of information in medicine.

[26]  S. Schewe,et al.  Stepwise development of a clinical expert system in rheumatology , 2004, The clinical investigator.

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

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

[29]  Regina K. Cheung,et al.  Mechanistic biomarkers for clinical decision making in rheumatic diseases , 2013, Nature Reviews Rheumatology.

[30]  M L Astion,et al.  Application of neural networks to the classification of giant cell arteritis. , 1994, Arthritis and rheumatism.

[31]  A. Moayyeri,et al.  The Value of Bayes Theorem in the Interpretation of Subjective Diagnostic Findings: What Can We Learn from Agreement Studies? , 2007, Medical decision making : an international journal of the Society for Medical Decision Making.

[32]  K. Adlassnig,et al.  Present State of the Medical Expert System CADIAG-2 , 1985, Methods of Information in Medicine.

[33]  D. Moher,et al.  Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement , 2009, BMJ : British Medical Journal.

[34]  J. Müller,et al.  Messung der Narkosetiefe , 2007, Der Anaesthesist.

[35]  Robyn Tamblyn,et al.  The effectiveness of integrated health information technologies across the phases of medication management: a systematic review of randomized controlled trials , 2012, J. Am. Medical Informatics Assoc..

[36]  Cord Spreckelsen,et al.  Present Situation and Prospect of Medical Knowledge Based Systems in German-speaking Countries , 2012, Methods of Information in Medicine.

[37]  K P Adlassnig,et al.  A prospective evaluation of the medical consultation system CADIAG-II/RHEUMA in a rheumatological outpatient clinic. , 2001, Methods of information in medicine.

[38]  C. Romanò,et al.  Combined Diagnostic Tool for joint prosthesis infections. , 2009, Le infezioni in medicina : rivista periodica di eziologia, epidemiologia, diagnostica, clinica e terapia delle patologie infettive.

[39]  A S Rigby,et al.  Development of a Scoring System to Assist in the Diagnosis of Rheumatoid Arthritis , 1991, Methods of Information in Medicine.

[40]  Saso Dzeroski,et al.  Acquiring background knowledge for machine learning using function decomposition: a case study in rheumatology , 1998, Artif. Intell. Medicine.

[41]  H. J. Bernelot Moens Validation of the AI/RHEUM knowledge base with data from consecutive rheumatological outpatients. , 1992 .

[42]  H J Bernelot Moens Validation of the AI/RHEUM knowledge base with data from consecutive rheumatological outpatients. , 1992, Methods of information in medicine.

[43]  J F Fries,et al.  Experience counting in sequential computer diagnosis. , 1970, Archives of internal medicine.

[44]  Bruce G. Buchanan,et al.  The MYCIN Experiments of the Stanford Heuristic Programming Project , 1985 .

[45]  A Bisteni,et al.  [Computers in medicine]. , 1998, Gaceta medica de Mexico.

[46]  David C. Thompson,et al.  Biomarkers in rheumatology, now and in the future. , 2012, Rheumatology.

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

[48]  K P Adlassnig,et al.  [RHEUMexpert: a documentation and expert system for rheumatic diseases]. , 1999, Wiener medizinische Wochenschrift.

[49]  Alex A. T. Bui,et al.  Evaluation of a Dynamic Bayesian Belief Network to Predict Osteoarthritic Knee Pain Using Data from the Osteoarthritis Initiative , 2008, AMIA.

[50]  R M Prust,et al.  Diagnostic knowledge base construction. , 1984, Medical informatics = Medecine et informatique.

[51]  J J Sancho,et al.  Validation of the medical expert system RENOIR. , 1994, Computers and biomedical research, an international journal.

[52]  K. Kahn,et al.  Case finding for population-based studies of rheumatoid arthritis: comparison of patient self-reported ACR criteria-based algorithms to physician-implicit review for diagnosis of rheumatoid arthritis. , 2004, Seminars in arthritis and rheumatism.

[53]  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.

[54]  D. van Zeben,et al.  Diagnostic performance of the ACR/EULAR 2010 criteria for rheumatoid arthritis and two diagnostic algorithms in an early arthritis clinic (REACH) , 2011, Annals of the rheumatic diseases.

[55]  L C Kingsland,et al.  Computer-assisted Diagnosis of Pediatric Rheumatic Diseases , 1998, Pediatrics.

[56]  I. Kohane,et al.  Escaping the EHR trap--the future of health IT. , 2012, The New England journal of medicine.

[57]  C Lombardi,et al.  Search engine as a diagnostic tool in difficult immunological and allergologic cases: is Google useful? , 2009, Internal medicine journal.

[58]  Joan J. Sancho,et al.  Controlling for Chance Agreement in the Validation of Medical Expert Systems with No Gold Standard: PNEUMON-IA and RENOIR Revisited , 2000, Comput. Biomed. Res..

[59]  J. Baird,et al.  Computer assessment and diagnostic classification of chronic pain patients. , 2007, Pain medicine.

[60]  M. Wener Multiplex, megaplex, index, and complex: the present and future of laboratory diagnostics in rheumatology , 2011, Arthritis research & therapy.

[61]  Geoffrey J. Gordon,et al.  Artificial Intelligence in Medicine: 17th Conference on Artificial Intelligence in Medicine, AIME 2019, Poznan, Poland, June 26–29, 2019, Proceedings , 2019, Lecture Notes in Computer Science.

[62]  K Boegl,et al.  [New approaches to computer-assisted diagnosis of rheumatologic diseases]. , 1995, Der Radiologe.

[63]  P. Brooks,et al.  A controlled evaluation of diagnostic criteria in the development of a rheumatology expert system. , 1989, British journal of rheumatology.

[64]  K. Adlassnig,et al.  Development and evaluation of fuzzy criteria for the diagnosis of rheumatoid arthritis. , 1996, Methods of information in medicine.