Researchers from the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) created MMFP-Tableau, a novel and low-cost workflow solution to integrate complex data curated from a variety of clinical and research health system sources to generate accessible datasets for direct query by clinicians and researchers. This automated web tool keeps data secure but facilitates a better flow of information about individual patients and patient cohorts with rare diseases. The tool, developed for primary mitochondrial disease, a group of highly variable energy deficiency disorders, is widely applicable to a range of health disorders. The first description of MMFP-Tableau was recently published online by the journal JAMIA Open.
Mitochondrial disease is a very heterogeneous disorder with a variety of causes, and pathogenic variants in more than 400 genes are now recognized to cause a variety of primary mitochondrial diseases. Primary mitochondrial disease also manifests across many different organs and tissues, creating a wide variety of clinical signs and symptoms. As such, an incredible amount of health system data is generated on individuals with mitochondrial disease. Embracing real world, data-driven, precision medicine strategies is crucial to advance understanding of the natural history of these diseases, improve management opportunities, and identify patients or patient cohorts most likely to benefit from specific therapeutic intervention trials.
A significant challenge limiting effective use of the wide range of existing health system data is their tendency to be housed in individual siloes depending on at which aspect of research or care they are generated, and the failure of these silos to collect data in a standardized way that can easily be interrelated with data from other silos. To address this foundational hurdle, researchers developed a novel data integration flow designed to automate clinical and research health data curation, integration, and provision of centralized access capabilities for ready end-user visualization, querying, and analysis to help researchers rapidly explore and understand this complex, high-dimensional, health system information.
“We believe our tool’s ability to enable automated biomedical data integration with complex analytics modeling can help drive forward clinical care by providing supporting data to assist with making accurate, data-informed care decisions,” said the study’s first author Ibrahim George-Sankoh, MSc, a researcher and data integration analyst with the Mitochondrial Medicine Frontier Program and the Department of Biomedical Health Informatics at CHOP. “It also dramatically accelerates rigorous research efforts by enabling longitudinal data studies, outcome measure development and monitoring, preclinical evaluation of subjects’ samples, selection of disease-specific biomarkers, clinical trial design parameters, and precision treatment trial tracking for primary mitochondrial disease.”
MMFP-Tableau, named for its development in the Mitochondrial Medicine Frontier Program at CHOP, integrates data from more than 2,000 individuals who have been evaluated by CHOP’s Mitochondrial Medicine clinical program as well as patients enrolled in approved human subjects research protocols. MMFP-Tableau users may adapt filters and views to meet their current analysis needs including a cohort-level view with full patient list, distribution graphs of causal genes and pathogenic variants for a specific disease subcohort, and free text search filters to allow streamlined queries of patient subgroups; individual patient laboratory test results and medications; individual patient medical data such as problem lists, medication use, or hospitalization frequency; and locations and volumes of research study subject samples.
“The MMFP-Tableau extracts and synchronizes a wide array of clinical electronic medical record and research data elements to provide clinically meaningful and potentially actionable data for direct query and use by clinicians and researchers alike,” said senior study author Marni Falk, MD, Professor, Executive Director, and Attending Physician in the Mitochondrial Medicine Frontier Program at CHOP. “Our team has found this tool to have made a meaningful difference in our team’s capacity to manage as well as perform research to better understand and treat mitochondrial disease patients.”
This study was supported by the CHOP Mitochondrial Medicine Frontier Program and the National Institutes of Health grant R35-GM134863.
George-Sankoh et al, “MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data.” JAMIA Open. Online November 18, 2024. DOI: 10.1093/jamiaopen/ooae134.
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Researchers from the Mitochondrial Medicine Frontier Program at Children’s Hospital of Philadelphia (CHOP) created MMFP-Tableau, a novel and low-cost workflow solution to integrate complex data curated from a variety of clinical and research health system sources to generate accessible datasets for direct query by clinicians and researchers. This automated web tool keeps data secure but facilitates a better flow of information about individual patients and patient cohorts with rare diseases. The tool, developed for primary mitochondrial disease, a group of highly variable energy deficiency disorders, is widely applicable to a range of health disorders. The first description of MMFP-Tableau was recently published online by the journal JAMIA Open.
Mitochondrial disease is a very heterogeneous disorder with a variety of causes, and pathogenic variants in more than 400 genes are now recognized to cause a variety of primary mitochondrial diseases. Primary mitochondrial disease also manifests across many different organs and tissues, creating a wide variety of clinical signs and symptoms. As such, an incredible amount of health system data is generated on individuals with mitochondrial disease. Embracing real world, data-driven, precision medicine strategies is crucial to advance understanding of the natural history of these diseases, improve management opportunities, and identify patients or patient cohorts most likely to benefit from specific therapeutic intervention trials.
A significant challenge limiting effective use of the wide range of existing health system data is their tendency to be housed in individual siloes depending on at which aspect of research or care they are generated, and the failure of these silos to collect data in a standardized way that can easily be interrelated with data from other silos. To address this foundational hurdle, researchers developed a novel data integration flow designed to automate clinical and research health data curation, integration, and provision of centralized access capabilities for ready end-user visualization, querying, and analysis to help researchers rapidly explore and understand this complex, high-dimensional, health system information.
“We believe our tool’s ability to enable automated biomedical data integration with complex analytics modeling can help drive forward clinical care by providing supporting data to assist with making accurate, data-informed care decisions,” said the study’s first author Ibrahim George-Sankoh, MSc, a researcher and data integration analyst with the Mitochondrial Medicine Frontier Program and the Department of Biomedical Health Informatics at CHOP. “It also dramatically accelerates rigorous research efforts by enabling longitudinal data studies, outcome measure development and monitoring, preclinical evaluation of subjects’ samples, selection of disease-specific biomarkers, clinical trial design parameters, and precision treatment trial tracking for primary mitochondrial disease.”
MMFP-Tableau, named for its development in the Mitochondrial Medicine Frontier Program at CHOP, integrates data from more than 2,000 individuals who have been evaluated by CHOP’s Mitochondrial Medicine clinical program as well as patients enrolled in approved human subjects research protocols. MMFP-Tableau users may adapt filters and views to meet their current analysis needs including a cohort-level view with full patient list, distribution graphs of causal genes and pathogenic variants for a specific disease subcohort, and free text search filters to allow streamlined queries of patient subgroups; individual patient laboratory test results and medications; individual patient medical data such as problem lists, medication use, or hospitalization frequency; and locations and volumes of research study subject samples.
“The MMFP-Tableau extracts and synchronizes a wide array of clinical electronic medical record and research data elements to provide clinically meaningful and potentially actionable data for direct query and use by clinicians and researchers alike,” said senior study author Marni Falk, MD, Professor, Executive Director, and Attending Physician in the Mitochondrial Medicine Frontier Program at CHOP. “Our team has found this tool to have made a meaningful difference in our team’s capacity to manage as well as perform research to better understand and treat mitochondrial disease patients.”
This study was supported by the CHOP Mitochondrial Medicine Frontier Program and the National Institutes of Health grant R35-GM134863.
George-Sankoh et al, “MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data.” JAMIA Open. Online November 18, 2024. DOI: 10.1093/jamiaopen/ooae134.
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The findings also found that older patients with primary mitochondrial disease have a lower quality of life than pediatric patients with the same disease.
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