DallasWorkshop

Signs, Symptoms and Findings: First Steps Toward an Ontology of Clinical Phenotypes

Workshop organized by: Richard Scheuermann, University of Texas Southwestern Medical Center, Dallas

Sponsored by: National Center for Biomedical Ontology (NCBO) and University of Texas Southwestern Medical Center, Dallas Clinical and Translational Science Award (CTSA) Program

Date: September 3-4, 2008

Venue: Dallas/Fort Worth Airport Marriott [1]. Details with regard to discounted room rate will be sent to confirmed participants in due course.

Signs, Symptoms and Findings: First Steps Toward an Ontology of Clinical Phenotypes is funded by the United States National Institutes of Health (NIH) through the NIH Roadmap for Medical Research, Grant 1 U54 HG004028. Information on the National Centers for Biomedical Computing can be found at: [2].

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Overview

The goals of clinical and translational research are to achieve a better understanding of the pathogenesis of human disease in order to develop effective diagnostic, therapeutic and prevention strategies. Biomedical informatics can play an important role is supporting this research by facilitating the management, integration, analysis and exchange of data derived from and related to the research problems being studied. A key aspect of this support is to bring clarity, rigor and formalism to the representation of

1. disease initiation, progression, pathogenesis, signs, symptoms, assessments, clinical and laboratory findings, disease diagnosis, treatment, treatment response and outcome, and

2. the interrelations between these distinct entities both in patient management and in clinical research,

thus allowing the data to be more readily retrievable and shareable, and more able to serve in the support of algorithmic reasoning.

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Goals

The tentative goals of the workshop will be to:

• Utilize consistent ontological design and development principles to describe disease signs and symptoms, clinical and laboratory findings, and their interrelations.

• Delineate the roles that signs, symptoms and findings play in both clinical patient management and in clinical research.

• Develop a clear understanding and representation of the distinction between clinical and pre-clinical manifestations of signs, symptoms and findings.

• Take first steps towards harmonizing the ontological representation of disease signs and symptoms and clinical and laboratory findings with existing and emerging standards in knowledge representation from the health informatics and bioinformatics communities

• Explore incorporation of the results of this work into the CTSA Human Studies Metadata Repository framework

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Prospective participants include

It is our goal to have the following communities represented: NCBO, CTSA, HL7, CDISC, SNOMED, OBO, NIH

Jonas Almeida (M.D. Anderson)

Brian Athey (Michigan)

Yasser alSafadi (Philips Medical Informatics)

Elmer Bernstam (Houston)

Olivier Bodenreider (NLM)

Anita Burgun (Rennes)

Chris Chute (Mayo)

Jim Cimino (NIH)

Jennifer Fostel (NIEHS)

Herb Hagler (U.T. Southwestern)

Carol Hamilton (RTI)

Bill Hersch (Oregon)

William Hogan (Pittsburgh)

David Karp (U.T. Southwestern)

Warren Kibbe (Northwestern)

Bron Kisler (CDISC)

Isaac Kohane (Harvard)

Harold Lehmann (Johns Hopkins)

Suzi Lewis (Berkeley)

Yves Lussier (Chicago)

Clem McDonald (NLM)

Chris Mungall (Berkeley)

Meredith Nahm (Duke)

Alan Rector (Manchester)

Daniel Rubin (Stanford)

Stefan Schulz (Freiberg)

Ida Sim (UCSF)

Barry Smith (Buffalo)

Kent Spackman (Oregon)

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Tentative Agenda

Day 1

8:30am Registration and Continental Breakfast

• Session 1 - Health care and clinical research perspective o Presentations by local clinicians and clinical investigators o Presentations of selected CTSA use cases

• Session 2 - Brief overview of ontology formalisms

• Session 3 - Brief presentations of existing and emerging standards regarding the use of terminologies related to signs, symptoms and findings

• Session 4 - Proposals for ontology-based clarification and unification of ‘sign’, ‘symptom’, ‘finding’ and related terms with the goal of achieving improved understanding of what they are and how they relate to each other

Day 2

8:30am Continental Breakfast

• Session 5 - Working session to utilize consistent ontological design and development principles to describe disease signs and symptoms, clinical and laboratory finding, and their interrelations

• Session 6 - Discussion of strategies to achieve convergence between the ontological representation of disease signs and symptoms and clinical and laboratory findings with the existing and emerging standards in knowledge representation from the health informatics and bioinformatics communities

4:00pm Close