ontology-driven clinical intelligence: removing data barriers for cross-discipline research

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Ontology-Driven Clinical Intelligence Removing Data Barriers for Cross-Discipline Research Bruce Pharr | Vice President, Life Sciences Research Systems Medical Informatics World | April 29, 2014 1

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The presentation describes how Remedy Informatics is advocating and innovating "flexible standardization" through an ontology-driven approach to clinical research. You will see in greater detail how a foundational, standardized Mosaic Ontology can be extended for more specific research applications and even more specific and focused disease research.

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Page 1: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Ontology-Driven Clinical Intelligence Removing Data Barriers for Cross-Discipline Research  

Bruce Pharr | Vice President, Life Sciences Research Systems

Medical Informatics World | April 29, 2014

1  

Page 2: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Data Barriers to Clinical Research Critical Data is Dispersed in Separate Systems

Considering the vast stores of clinical data available to potential investigators, the actual amount of clinical research performed has been quite modest. At many medical centers, the data is dispersed in separate systems that have evolved independently of one another.

Obstacles and Approaches to Clinical Database Research: Experience at the University of California, San Francisco

Disease A Disease B

Page 3: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Removing the Data Barriers Structured Digital Data with Standardized Metadata and Ontology

Source: Anne E. Thessen and David J. Patterson, Data issues in life sciences, PMC (NIH/NLM) (November 28, 2011).

Disease A Disease B

The discovery of scientific insights through effective management and reuse of data requires several conditions to be optimized:

•  Data needs to be digital; •  Data needs to be structured; •  Data needs to be standardized in terms of metadata and ontology.

Data Issues in Life Sciences, Data Conservancy (Life Sciences)

Page 4: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Ontology-Driven Clinical Intelligence Structured Data with Standardized Metadata and Ontology

Siloed Legacy Patient/Disease Databases

Clinical Research

Mosaic™ Ontology-Driven Platform

Analytical Lab

Biobank

New Data

Patient

Pre-analytical Data

Post-analytical Data

Legacy Data

Patient/Disease Registry

Harmonized, Mapped New

and Legacy Data

Cross-Discipline Research

Intuitive Cross-Registry

Queries

Page 5: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Ontology-Driven Clinical Intelligence Remedy Informatics Architecture

Remedy Informatics

Mosaic™ Platform

Mosaic Engine Functional Layers: Physical, Data Model, Information Model, Ontology, Representation Model

Mosaic Applications Content and Registry Development

Specimen Track™ & Study Manager™

Research Management System

Remedy AMH™

Aggregate, Map & Harmonize

Legacy Patient/Disease Data

Ontology Manager™

Registry Builder™

Harmonized Patient/Disease Data

Cross-Discipline Research

Patient

Biobank Analytical Lab

Clinical Research

New Pre- and Post-Analytical Data

Page 6: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Ontology What is it?

Ontology is an explicitly defined reference model of application domains with the purpose of improving information consistency and reusability, systems interoperability, and knowledge sharing. Ontology formally represents knowledge as a set of concepts within a domain, and the relationships between pairs of concepts. It provides a shared vocabulary, which can be used to model a domain.

A Novel Method to Transform Relational Data into Ontology in the Biomedical Domain, International Journal of Engineering and Technology

Page 7: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Mosaic Ontology A Purpose-Specific Structured Data Model

1.  Predefined, standardized terminology 2.  Domain-specific mapped relationships 3.  Permissible values and validation rules

Mosaic™ Platform

Mosaic Engine Functional Layers: Physical, Data Model, Information Model, Ontology, Representation Model

Mosaic Applications Content and Registry Development

Page 8: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Mosaic Ontology Predefined, Standardized Terminology (Vocabulary)

Domain Standards for Terminology Acronym Standard Description

CDISC Clinical Data Interchange Standards Consortium

Data standards for information system interoperability to improve medical research.

GO Gene Ontology Standardize the representation of gene and gene product attributes across species and databases.

ICD International Statistical Classification of Diseases

International health care classification system of diagnostic codes for classifying disease.

LOINC Logical Observation Identifiers Names and Codes

A database and universal standard for identifying medical laboratory observations.

RxNorm Prescription Normalization Normalized names for clinical drugs with drug vocabularies used in pharmacy management and drug interaction software.

SNOMED CT Systematized Nomenclature of Medicine—Clinical Terms

Computable collection of medical codes, terms, synonyms, and definitions used in clinical documentation and reporting.

Page 9: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Mosaic Ontology Predefined, Standardized Terminology

Lab Result LOINC

Subject

Units

High End of Normal

Low End of Normal

Confidentiality

Validation Status

Validator

Supplier of Data

Disorder SNOMED CT

Assertion

Subject

Severity

Stage

Response to Treatment

Active State

Onset Date

Resolved State

First Diagnosed Date

Confidentiality

Source

Date of Entry

Validation Status

Validator

Supplier of Data

Procedure SNOMED CT

Subject

Operator

Facility

Start-Stop Time

Urgency Status

Intent

Confidentiality

Source

Date of Entry

Validation Status

Validator

Supplier of Data

Page 10: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Has Result

Response to Tx

Evidence for

Cause

Mosaic Ontology Domain-Specific Mapped Relationships

Lab Result LOINC

Subject

Units

High End of Normal

Low End of Normal

Confidentiality

Validation Status

Validator

Supplier of Data

Disorder SNOMED CT

Assertion

Subject

Severity

Stage

Response to Treatment

Active State

Onset Date

Resolved State

First Diagnosed Date

Confidentiality

Source

Date of Entry

Validation Status

Validator

Supplier of Data

Procedure SNOMED CT

Subject

Operator

Facility

Start-Stop Time

Urgency Status

Intent

Confidentiality

Source

Date of Entry

Validation Status

Validator

Supplier of Data

Indication

Contraindication

Page 11: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Mild

Moderate

Severe Screening

Diagnostic

Prevention

Therapeutic

Palliation

End-of-Life

Mosaic Ontology Permissible Value and Validation Rules

Disorder SNOMED CT

Assertion

Subject

Severity

Stage

Response to Treatment

Active State

Onset Date

Resolved State

First Diagnosed Date

Confidentiality

Source

Date of Entry

Validation Status

Validator

Supplier of Data

Procedure SNOMED CT

Subject

Operator

Facility

Start-Stop Time

Urgency Status

Intent

Confidentiality

Source

Date of Entry

Validation Status

Validator

Supplier of Data

Page 12: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Mosaic Ontology Standardized, Extensible Disease Registries…

Page 13: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Mosaic Ontology …Enable Cross-Discipline Research

Page 14: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Remedy Informatics A Clinical Intelligence Company

Remedy Informatics is a clinical intelligence company that is transforming global biomedical research and healthcare.

Our clients include: Academic medical centers Biopharmaceutical companies Biomedical research organizations

Our solutions enable clients to: Collect, harmonize, and analyze data across disciplines Detect patterns in clinical data Accelerate disease and therapeutic research

Ultimately, our solutions enable you to bring safe, effective, increasingly personalized treatments to market faster and more efficiently.

Page 15: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Remedy Informatics Systems and Solutions

RESEARCH SYSTEMS Specimen Track™ Biobank Management System Study Manager™ Clinical Research Management System

TECHNOLOGY SOLUTIONS Mosaic™ Platform

Mosaic Ontology Mosaic Engine Mosaic Builder

TIMe™—The Informatics Marketplace™

CLINICAL REGISTRIES Comprehensive Blood Cancer™ Comprehensive BMT™ Comprehensive Heart & Vascular™ Comprehensive Orthopedics™ Comprehensive Solid Tumor™

Page 16: Ontology-Driven Clinical Intelligence: Removing Data Barriers for Cross-Discipline Research

Thanks! – Questions?

Bruce Pharr Vice President, Life Sciences Research Systems [email protected] Remedy Informatics www.remedyinformatics.com