Difference between revisions of "Journal:Big data as a driver for clinical decision support systems: A learning health systems perspective"

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One of the most widely used open source tools to collect multidimensional data by aggregating different sources is the Informatics for Integrating Biology and the Bedside (i2b2) framework (https://www.i2b2.org). i2b2 is one of the seven centers funded by the NIH Roadmap for Biomedical Computing (http://www.ncbcs.org). The mission of i2b2 is to provide clinical investigators with a service-based software infrastructure able to integrate clinical records and research data, and easily query them. To facilitate the query process, data are mapped to concepts organized in an ontology-like structure. i2b2 ontologies aim at organizing concepts related to each data stream in a hierarchical structure. For example, drug prescriptions can be represented through their ATC drug codes in the drug ontology<ref name="DagliatiAData14">{{cite journal |title=A data gathering framework to collect Type 2 diabetes patients data |journal=Proceedings from the IEEE-EMBS International Conference on Biomedical and Health Informatics (BHI) |author=Dagliati, A.; Sacchi, L.; Bucalo, M. et al. |volume=2014 |pages=244–247 |year=2014 |doi=10.1109/BHI.2014.6864349}}</ref>, or a subset of [[laboratory]] tests from [[anatomical pathology]] can be linked to the SNOMED ontology.<ref name="SegagniAnICT12">{{cite journal |title=An ICT infrastructure to integrate clinical and molecular data in oncology research |journal=BMC Bioinformatics |author=Segagni, D.; Tibollo, V.; Dagliati, A. et al. |volume=13 |issue=Suppl. 4 |pages=S5 |year=2012 |doi=10.1186/1471-2105-13-S4-S5 |pmid=22536972 |pmc=PMC3303735}}</ref> Furthermore, i2b2 is linked to ontologies available from BioPortal (http://i2b2.bioontology.org/) in order to integrate the most common medical ontologies into the system.
One of the most widely used open source tools to collect multidimensional data by aggregating different sources is the Informatics for Integrating Biology and the Bedside (i2b2) framework (https://www.i2b2.org). i2b2 is one of the seven centers funded by the NIH Roadmap for Biomedical Computing (http://www.ncbcs.org). The mission of i2b2 is to provide clinical investigators with a service-based software infrastructure able to integrate clinical records and research data, and easily query them. To facilitate the query process, data are mapped to concepts organized in an ontology-like structure. i2b2 ontologies aim at organizing concepts related to each data stream in a hierarchical structure. For example, drug prescriptions can be represented through their ATC drug codes in the drug ontology<ref name="DagliatiAData14">{{cite journal |title=A data gathering framework to collect Type 2 diabetes patients data |journal=Proceedings from the IEEE-EMBS International Conference on Biomedical and Health Informatics (BHI) |author=Dagliati, A.; Sacchi, L.; Bucalo, M. et al. |volume=2014 |pages=244–247 |year=2014 |doi=10.1109/BHI.2014.6864349}}</ref>, or a subset of [[laboratory]] tests from [[anatomical pathology]] can be linked to the SNOMED ontology.<ref name="SegagniAnICT12">{{cite journal |title=An ICT infrastructure to integrate clinical and molecular data in oncology research |journal=BMC Bioinformatics |author=Segagni, D.; Tibollo, V.; Dagliati, A. et al. |volume=13 |issue=Suppl. 4 |pages=S5 |year=2012 |doi=10.1186/1471-2105-13-S4-S5 |pmid=22536972 |pmc=PMC3303735}}</ref> Furthermore, i2b2 is linked to ontologies available from BioPortal (http://i2b2.bioontology.org/) in order to integrate the most common medical ontologies into the system.


Since it was developed, the i2b2 framework has involved other parallel projects. The interoperability project “Substitutable Medical Applications and Reusable Technologies” (SMART) was devoted to developing a platform that allows medical applications to be written once and then run across different healthcare IT systems.<ref name="MandlTheSMART12">{{cite journal |title=The SMART Platform: early experience enabling substitutable applications for electronic health records |journal=JAMIA |author=Mandl, K.D.; Mandel, J.C.; Murphy, S.N. et al. |volume=19 |issue=4 |pages=597-603 |year=2012 |doi=10.1136/amiajnl-2011-000622 |pmid=22427539 |pmc=PMC3384120}}</ref> SMART has been updated to take advantage of the clinical data models and the [[application programming interface]] described in a new, openly licensed [[Health Level Seven]] (HL7) draft standard called Fast Health Interoperability Resources (FHIR). The new platform is called SMART on FHIR<ref name="MandelSMART16">{{cite journal |title=SMART on FHIR: A standards-based, interoperable apps platform for electronic health records |journal=JAMIA |author=Mandel, J.C.; Kreda, D.A.; Mandl, K.D. et al. |volume=23 |issue=5 |pages=899–908 |year=2016 |doi=10.1093/jamia/ocv189 |pmid=26911829 |pmc=PMC4997036}}</ref>, and it has been recently exploited to build an interface that serves patient data from i2b2 repositories.<ref name="WagholikarSMART17">{{cite journal |title=SMART-on-FHIR implemented over i2b2 |journal=JAMIA |author=Wagholikar, K.B.; Mandel, J.C.; Klann, J,G. et al. |volume=24 |issue=2 |pages=398–402 |year=2017 |doi=10.1093/jamia/ocw079 |pmid=27274012 |pmc=PMC5391721}}</ref> I2b2/SMART can thus effectively implement the sidecar approach, which allows clinicians to continue using existing clinical systems (EHR) as-is while resorting to a secondary database (the i2b2 instance) for decision making.


==References==
==References==

Revision as of 22:43, 1 May 2018

Full article title Big data as a driver for clinical decision support systems: A learning health systems perspective
Journal Frontiers in Digital Humanities
Author(s) Dagliati, Arianna; Tibolloa, Valentina; Sacchi, Lucia; Malovini, Alberto; Limongelli, Ivan; Gabetta, Matteo;
Napolitano, Carlo; Mazzanti, Andrea; De Cata, Pasquale; Chovato, Luca; Priori, Sylvia; Bellazzi, Riccardo
Author affiliation(s) Istituti Clinici Scientifici Maugeri, University of Manchester, Università degli Studi di Pavia, Engenome s.r.l., Biomeris s.r.l.
Primary contact Email: riccardo dot bellazzi at unipv dot it
Editors Cavallo, Pierpaolo
Year published 2018
Volume and issue 5
Page(s) 8
DOI 10.3389/fdigh.2018.00008
ISSN 2297-2668
Distribution license Creative Commons Attribution 4.0 International
Website https://www.frontiersin.org/articles/10.3389/fdigh.2018.00008/full
Download https://www.frontiersin.org/articles/10.3389/fdigh.2018.00008/pdf (PDF)

Abstract

Big data technologies are nowadays providing health care with powerful instruments to gather and analyze large volumes of heterogeneous data collected for different purposes, including clinical care, administration, and research. This makes possible to design IT infrastructures that favor the implementation of the so-called “Learning Healthcare System Cycle,” where healthcare practice and research are part of a unique and synergistic process. In this paper we highlight how "big-data-enabled” integrated data collections may support clinical decision-making together with biomedical research. Two effective implementations are reported, concerning decision support in diabetes and in inherited arrhythmogenic diseases.

Keywords: big data, learning health care cycle, data warehouses, data integration, data analytics

Introduction

Following a broadly recognized definition, big data is data “whose scale, diversity, and complexity require new architecture, techniques, algorithms, and analytics to manage it and extract value and hidden knowledge from it.”[1] This definition embraces the multifactorial nature of this kind of data and the technological challenges implied. The integration of different sources of information, from primary and secondary care to administrative data, seems a substantial opportunity that big data provides to healthcare.[2][3][4][5][6] Such integration may allow depicting a novel view of patients' care processes and of single patient's behaviors while taking into account the multifaceted aspects of clinical and chronic care.

The interest in the collection of large and heterogeneous healthcare data sources finds a distinctive application in the definition of novel data-driven decision support systems.[7][8][9] Several authors[8][9][10] define two main fields where researchers should address their efforts to produce valuable results in this area: (i) the secondary use of data to create new evidence and glean important insights to make better clinical decision or to reshape health care organizational components; and (ii) the detection of novel correlations from asynchronous events to allow clinicians to promptly identify potential complications, timely adjust treatments, or help analyze similar manifestations in clinical diagnoses. To pledge better renewed decision making, and consequent successful clinical outcomes, big-data-enabled health care systems should effectively integrate advanced computational tools, including novel similarity measures for patients' stratification, and predictive analytics for risk assessment and selection of therapeutic interventions.[11][12][13][14]

The availability of new data sources is thus leading to the development of a novel model of healthcare, able to fully exploit the potentials of data-driven decision making. The main consequence is that big data will not only be an important enabler for research, but also for the clinical and organizational decision making. We will discuss this perspective within the context of the so-called “Learning Healthcare System Cycle” (LHSC).[15][16][17][18][19][20] We demonstrate the importance of leveraging on LHSC solutions in developing next-generation clinical and organizational decision systems, as follows: (i) we describe a possible formalization for the use of the learning healthcare aystem, proposing a conceptual solution based on state-of-the-art technologies for data production; and (ii) we present two systems implanted upon the LHSC as proof of concept of the validity of the formalized concepts in different clinical scenarios.

Big data and the learning healthcare system cycle

Novel and essential directions in the use of big data for healthcare have been recently redefined within the medical informatics community.[21] Specifically, the well-known conceptual approach of the “data, information, and knowledge” continuum has been reconsidered as the LHSC, where healthcare practice and research should be part of a unique and synergic process. The first main novelty of this approach is to emphasize that clinical practice and research are complementary agents in the generation of data and knowledge.

The role of informatics is to provide the right tools to turn data into information, and information into knowledge, helping to understand deep data relations by retrieving and extracting underlying patterns. Moreover, informatics is crucial for the deployment of the acquired knowledge to support patient care and, ultimately, to guide individual behavior.

Our prospective is that the use of big data in medical informatics will be equally important in the different phases of the LHSC: from research to data driven decision-making. LSHC is indeed based on these two complementary actions, the first one focused on the exploitation of medical generated data for research purposes (care informs research), and the second one focused on the development of novel systems leveraging big data to guide clinical decision making (research informs care).

Care informs research: Research

In clinical practice, data is mostly collected from electronic health records (EHR), through which recent widespread adoption has made available a unique source of clinical information for research. The EHR can be used to extract and interpret clinical data, to automatically support clinical research, and improve quality of care. Specifically, EHR-based phenotyping uses data captured in the delivery of care to identify individuals or cohorts with conditions or events relevant to clinical studies[22][23][24] Some distinguishing aspects of the current literature include: (i) considering the temporal nature of the data—and explicitly including not only clinical information from EHR but also process information from administrative databases—recent methods allow, for example, the extraction of care-flows that highlight frequent patients' trajectories in terms of disease evolution as well as in terms of patterns of care; (ii) allow for computing patients' similarity by resorting to advanced “multimodal” data fusion strategies, including deep learning and tensor factorization; and (iii) fully apply natural language processing pipelines as enablers to integrate in the analytical process data and knowledge hidden in textual reports.

Research informs care: Data-driven decision making

Clinical decision support systems (CDSS) have been traditionally defined as software designed to aid clinical decision making by adapting computerized clinical guidelines and protocols to individual patient characteristics.[25] While it is recognized that developing and deploying CDSSs can be very beneficial in contexts that require complex decision-making, such as chronic disease management, their use in routine clinical practice is currently still limited.[26] Possible causes are related to poor user interfaces, lacking integration with EHRs, and limited analytics capabilities that do not allow data-driven reasoning.

We believe that, in order to provide successful decision support, CDSSs should comply with basic requirements, including: (i) rich contents in terms of knowledge, references, and data evidences; (ii) the capability of processing huge amounts of data with fast response times; and (iii) implementations that are intuitive, appealing, and able to catch users' attention while not delaying clinical actions. These features translate into the fundamental CDSS components: data and knowledge repositories, inference engines, and user interfaces. It is worth noticing that IT infrastructures designed to support research can also be used to assist clinical decision-making. An interesting paradigm is represented by the so-called “sidecar” approach, where the same data warehouse is used to analyze patients' cohorts at a population level and as an instrument to enable “case-based” reasoning in front of a complex clinical case by extracting similar patients and potential treatments.

Use of big data for clinical decision support: Available solutions and systems

Several conceptual design elements and software components are nowadays available to support the construction of systems for implementing LHSC.

Some well-known current initiatives and networks to support big data research include the National Institutes of Health's (NIH) Big Data to Knowledge (BD2K) projects[27], eMERGE[28], and PCORNet.[29] BD2K is an extensive funding initiative that encompasses several aspects of the enhancement of big data in biomedical research: from accessibility and reusability of data, to the development of novel methodologies and tools for analyzing big data. The eMERGE network serves to develop and share high-throughput clinical phenotyping algorithms in support of precision medicine. It includes several tools, like PheKB, a collaborative knowledge base for phenotype discovery and validation. In light of clinical decision support, the eMERGE network proposed the use of infobuttons[30][31] as a decision support tool to provide context-specific links within electronic health records to relevant genomic medicine content. PCORNet is aimed at improving the capacity to conduct comparative clinical effectiveness research thanks to patient-centered common data models. These data models leverage standard terminologies and coding systems for healthcare (including ICD, SNOMED, CPT, HCPSC, and LOINC) to enable interoperability with and responsiveness to evolving data standards. Examples of applications to chronic diseases include the use of PCORNet[32] to create a common data model for patients affected by metabolic diseases, or of eMERGE to secondary data analysis for personalized medicine and phenotype definition in Type 2 diabetes.[33][34]

One of the most widely used open source tools to collect multidimensional data by aggregating different sources is the Informatics for Integrating Biology and the Bedside (i2b2) framework (https://www.i2b2.org). i2b2 is one of the seven centers funded by the NIH Roadmap for Biomedical Computing (http://www.ncbcs.org). The mission of i2b2 is to provide clinical investigators with a service-based software infrastructure able to integrate clinical records and research data, and easily query them. To facilitate the query process, data are mapped to concepts organized in an ontology-like structure. i2b2 ontologies aim at organizing concepts related to each data stream in a hierarchical structure. For example, drug prescriptions can be represented through their ATC drug codes in the drug ontology[35], or a subset of laboratory tests from anatomical pathology can be linked to the SNOMED ontology.[36] Furthermore, i2b2 is linked to ontologies available from BioPortal (http://i2b2.bioontology.org/) in order to integrate the most common medical ontologies into the system.

Since it was developed, the i2b2 framework has involved other parallel projects. The interoperability project “Substitutable Medical Applications and Reusable Technologies” (SMART) was devoted to developing a platform that allows medical applications to be written once and then run across different healthcare IT systems.[37] SMART has been updated to take advantage of the clinical data models and the application programming interface described in a new, openly licensed Health Level Seven (HL7) draft standard called Fast Health Interoperability Resources (FHIR). The new platform is called SMART on FHIR[38], and it has been recently exploited to build an interface that serves patient data from i2b2 repositories.[39] I2b2/SMART can thus effectively implement the sidecar approach, which allows clinicians to continue using existing clinical systems (EHR) as-is while resorting to a secondary database (the i2b2 instance) for decision making.

References

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  36. Segagni, D.; Tibollo, V.; Dagliati, A. et al. (2012). "An ICT infrastructure to integrate clinical and molecular data in oncology research". BMC Bioinformatics 13 (Suppl. 4): S5. doi:10.1186/1471-2105-13-S4-S5. PMC PMC3303735. PMID 22536972. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303735. 
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  38. Mandel, J.C.; Kreda, D.A.; Mandl, K.D. et al. (2016). "SMART on FHIR: A standards-based, interoperable apps platform for electronic health records". JAMIA 23 (5): 899–908. doi:10.1093/jamia/ocv189. PMC PMC4997036. PMID 26911829. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4997036. 
  39. Wagholikar, K.B.; Mandel, J.C.; Klann, J,G. et al. (2017). "SMART-on-FHIR implemented over i2b2". JAMIA 24 (2): 398–402. doi:10.1093/jamia/ocw079. PMC PMC5391721. PMID 27274012. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391721. 

Notes

This presentation is faithful to the original, with only a few minor changes to grammar, spelling, and presentation, including the addition of PMCID and DOI when they were missing from the original reference.