role of biomedical informatics in translational cancer research

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Joel Saltz MD, PhD Chair Department of Biomedical Informatics Emory University Cancer Clinical and Translational Informatics Goals

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Presentation at the May 31, 2012 National Cancer Informatics Program Workshop

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Page 1: Role of Biomedical Informatics in Translational Cancer Research

Joel Saltz MD, PhDChair Department of Biomedical InformaticsEmory University

Cancer Clinical and Translational Informatics Goals

Page 2: Role of Biomedical Informatics in Translational Cancer Research

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1. Methods for integrative analyses, disease sub-typing and development/targeting of treatments based on genetic, genomic, proteomic, epigenetic, tissue and in-vivo imaging information

2. Quantitative analysis of Radiology and Pathology imaging data. Tools and methods for extracting features from imaging data and for using features to optimize cancer subtyping, change detection, characterization of treatment response.

Page 3: Role of Biomedical Informatics in Translational Cancer Research

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Integrative Biomedical Informatics Analysis• Reproducible

anatomic/functional characterization at fine level (Pathology) and gross level (Radiology)

• High throughput multi-scale image segmentation, feature extraction, analysis of features

• Integration of anatomic/functional characterization with multiple types of “omic” information

Radiology

Imaging

Patient Outcome

Pathologic Features

“Omic”

Data

Page 4: Role of Biomedical Informatics in Translational Cancer Research

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Example: Brain Tumor -- Correlation of Pathology Features with Integrative “omics”

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Example Correlative Imaging Results

• TP53 mutant tumors had a smaller mean tumor sizes (p=0.002) on T2-weighted or FLAIR images.

• EGFR mutant tumors were significantly larger than TP53 mutant tumors (p=0.0005).

• High level EGFR amplification was associated with >5% enhancement and >5% proportion of necrosis (p < 0.01).

> 5% Necrosis

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3. Tools and methods for inferring clinical course, treatment, comorbidities from electronic health record data

• Electronic Health/Medical Record (EMR) systems contain rich information

• EMR systems are generally not designed to support research studies– Data element structures, free text and value codes are not

targeted at research queries – Not readily interoperable. Different sites may represent same or

comparable data in different formats

• Inferring precise and nuanced descriptions of disease, co-morbidities, course, treatment (e.g. eMERGE; follow on projects such as MH-GRID)

• Integrate extracted/modeled electronic health record information with clinical trial and registry data

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Electronic Health Record Extraction Pipeline

Emory CDW

(Cloned)

Categorize clinical events

Classify numeric

data

Identify tempora

l patterns

• O/R mapping• Value set mapping

Virtual data model• Events• Observations• Demographics• Attributes• Associations

Mapping configuration

Mapping configurationUHC

(Staged)

Calculation of derived variables (transform)

Extract

Extract

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4. Methods and tools for biomedical-friendly HPC/Big data analytics. Current HPC/large scale data tools and platforms are powerful but can be relatively difficult to use.

5. Methods for management and annotation of large scale “omics” datasets.

6. Research on powerful, flexible ergonomic security architectures. Architectures need to minimize overhead required for secure data management.

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7. Learning health care system: – informatics driven highly customized two way

communication with patients and providers, customized decision support

– ability to generate and validate machine interpretable descriptions of health problems, co-morbidities

– data analytics to examine relationships between detailed patient health care status, physician, patient decision making, health care quality, resource utilization, health care outcomes

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8. Human computer interaction in coordination of research, clinical activities and decision support. Methods for coordinating activities of clinicians, clinical researchers, Radiologists, Pathologists, geneticists and basic scientists.