An open access medical knowledge base for community driven diagnostic decision support system development

Abstract Introduction While early diagnostic decision support systems were built around knowledge bases, more recent systems employ machine learning to consume large amounts of health data. We argue curated knowledge bases will remain an important component of future diagnostic decision support syst...

Full description

Bibliographic Details
Main Authors: Lars Müller, Rashmi Gangadharaiah, Simone C. Klein, James Perry, Greg Bernstein, David Nurkse, Dustin Wailes, Rishi Graham, Robert El-Kareh, Sanjay Mehta, Staal A. Vinterbo, Eliah Aronoff-Spencer
Format: Article
Language:English
Published: BMC 2019-04-01
Series:BMC Medical Informatics and Decision Making
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12911-019-0804-1
_version_ 1818243368916877312
author Lars Müller
Rashmi Gangadharaiah
Simone C. Klein
James Perry
Greg Bernstein
David Nurkse
Dustin Wailes
Rishi Graham
Robert El-Kareh
Sanjay Mehta
Staal A. Vinterbo
Eliah Aronoff-Spencer
author_facet Lars Müller
Rashmi Gangadharaiah
Simone C. Klein
James Perry
Greg Bernstein
David Nurkse
Dustin Wailes
Rishi Graham
Robert El-Kareh
Sanjay Mehta
Staal A. Vinterbo
Eliah Aronoff-Spencer
author_sort Lars Müller
collection DOAJ
description Abstract Introduction While early diagnostic decision support systems were built around knowledge bases, more recent systems employ machine learning to consume large amounts of health data. We argue curated knowledge bases will remain an important component of future diagnostic decision support systems by providing ground truth and facilitating explainable human-computer interaction, but that prototype development is hampered by the lack of freely available computable knowledge bases. Methods We constructed an open access knowledge base and evaluated its potential in the context of a prototype decision support system. We developed a modified set-covering algorithm to benchmark the performance of our knowledge base compared to existing platforms. Testing was based on case reports from selected literature and medical student preparatory material. Results The knowledge base contains over 2000 ICD-10 coded diseases and 450 RX-Norm coded medications, with over 8000 unique observations encoded as SNOMED or LOINC semantic terms. Using 117 medical cases, we found the accuracy of the knowledge base and test algorithm to be comparable to established diagnostic tools such as Isabel and DXplain. Our prototype, as well as DXplain, showed the correct answer as “best suggestion” in 33% of the cases. While we identified shortcomings during development and evaluation, we found the knowledge base to be a promising platform for decision support systems. Conclusion We built and successfully evaluated an open access knowledge base to facilitate the development of new medical diagnostic assistants. This knowledge base can be expanded and curated by users and serve as a starting point to facilitate new technology development and system improvement in many contexts.
first_indexed 2024-12-12T14:00:01Z
format Article
id doaj.art-90af0da5b21b4a0893e82dc3d5a3af5b
institution Directory Open Access Journal
issn 1472-6947
language English
last_indexed 2024-12-12T14:00:01Z
publishDate 2019-04-01
publisher BMC
record_format Article
series BMC Medical Informatics and Decision Making
spelling doaj.art-90af0da5b21b4a0893e82dc3d5a3af5b2022-12-22T00:22:22ZengBMCBMC Medical Informatics and Decision Making1472-69472019-04-011911710.1186/s12911-019-0804-1An open access medical knowledge base for community driven diagnostic decision support system developmentLars Müller0Rashmi Gangadharaiah1Simone C. Klein2James Perry3Greg Bernstein4David Nurkse5Dustin Wailes6Rishi Graham7Robert El-Kareh8Sanjay Mehta9Staal A. Vinterbo10Eliah Aronoff-Spencer11Design Lab, UCSDAmazon Web ServicesSchool of Medicine, UCSDSchool of Medicine, UCSDSchool of Medicine, UCSDSchool of Medicine, UCSDSchool of Medicine, UCSDDesign Lab, UCSDDivision of Biomedical Informatics, UCSDDivision of Infectious Diseases, UCSDDepartment of Information Security and Communication Technology, Norwegian University of Science and TechnologyDesign Lab, UCSDAbstract Introduction While early diagnostic decision support systems were built around knowledge bases, more recent systems employ machine learning to consume large amounts of health data. We argue curated knowledge bases will remain an important component of future diagnostic decision support systems by providing ground truth and facilitating explainable human-computer interaction, but that prototype development is hampered by the lack of freely available computable knowledge bases. Methods We constructed an open access knowledge base and evaluated its potential in the context of a prototype decision support system. We developed a modified set-covering algorithm to benchmark the performance of our knowledge base compared to existing platforms. Testing was based on case reports from selected literature and medical student preparatory material. Results The knowledge base contains over 2000 ICD-10 coded diseases and 450 RX-Norm coded medications, with over 8000 unique observations encoded as SNOMED or LOINC semantic terms. Using 117 medical cases, we found the accuracy of the knowledge base and test algorithm to be comparable to established diagnostic tools such as Isabel and DXplain. Our prototype, as well as DXplain, showed the correct answer as “best suggestion” in 33% of the cases. While we identified shortcomings during development and evaluation, we found the knowledge base to be a promising platform for decision support systems. Conclusion We built and successfully evaluated an open access knowledge base to facilitate the development of new medical diagnostic assistants. This knowledge base can be expanded and curated by users and serve as a starting point to facilitate new technology development and system improvement in many contexts.http://link.springer.com/article/10.1186/s12911-019-0804-1Decision support systems, clinical (D020000)Diagnosis, differential (D003937)Knowledge bases (D051188)
spellingShingle Lars Müller
Rashmi Gangadharaiah
Simone C. Klein
James Perry
Greg Bernstein
David Nurkse
Dustin Wailes
Rishi Graham
Robert El-Kareh
Sanjay Mehta
Staal A. Vinterbo
Eliah Aronoff-Spencer
An open access medical knowledge base for community driven diagnostic decision support system development
BMC Medical Informatics and Decision Making
Decision support systems, clinical (D020000)
Diagnosis, differential (D003937)
Knowledge bases (D051188)
title An open access medical knowledge base for community driven diagnostic decision support system development
title_full An open access medical knowledge base for community driven diagnostic decision support system development
title_fullStr An open access medical knowledge base for community driven diagnostic decision support system development
title_full_unstemmed An open access medical knowledge base for community driven diagnostic decision support system development
title_short An open access medical knowledge base for community driven diagnostic decision support system development
title_sort open access medical knowledge base for community driven diagnostic decision support system development
topic Decision support systems, clinical (D020000)
Diagnosis, differential (D003937)
Knowledge bases (D051188)
url http://link.springer.com/article/10.1186/s12911-019-0804-1
work_keys_str_mv AT larsmuller anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT rashmigangadharaiah anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT simonecklein anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT jamesperry anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT gregbernstein anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT davidnurkse anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT dustinwailes anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT rishigraham anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT robertelkareh anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT sanjaymehta anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT staalavinterbo anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT eliaharonoffspencer anopenaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT larsmuller openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT rashmigangadharaiah openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT simonecklein openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT jamesperry openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT gregbernstein openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT davidnurkse openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT dustinwailes openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT rishigraham openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT robertelkareh openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT sanjaymehta openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT staalavinterbo openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment
AT eliaharonoffspencer openaccessmedicalknowledgebaseforcommunitydrivendiagnosticdecisionsupportsystemdevelopment