Building a Knowledge Base for Variant Annotation Using Therapy Recommendations in cBioPortal

Molecular tumor boards present special challenges when it comes to information collection for case preparation. It is one of the most time-consuming tasks participating pathologists and oncologists face, limiting the number of cases that can be discussed in these specialized tumor boards and in turn can profit from a potential highly personalized therapy. Digital support is a necessity to enable medical professionals to efficiently make use of the vast amount of data available for each patient and their genomic and clinical profile. This includes historically recommended therapies for patients with molecularly similar tumors. To combat this issue, we developed an extension for the MTB-cBioPortal in collaboration with clinicians, enabling users to access previously documented therapy recommendations combined with corresponding follow-up data based on HL7 FHIR profiles and modules established in the Medical Informatics Initiative (MII). The information is made available through an additional annotation in the MTB-cBioPortal patient view. In doing so we intend to improve the efficiency of the case preparation process for molecular tumor boards and lay the groundwork for a potential multicentric exchange of therapy recommendations and follow-up data.

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Publication Details

Journal
Studies in health technology and informatics
Published
2025-05-15
DOI
https://doi.org/10.3233/shti250281
Primary Topic
Biomedical Text Mining and Ontologies
Type
article
Field-Weighted Citation Impact
0.00

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article

Building a Knowledge Base for Variant Annotation Using Therapy Recommendations in cBioPortal

Philipp Unberath, Alexander Scheiter, Dominik Boehm, Niklas Reimer et al.
Studies in health technology and informatics
Biomedical Text Mining and Ontologies
article

Building a Knowledge Base for Variant Annotation Using Therapy Recommendations in cBioPortal

Philipp Unberath, Alexander Scheiter, Dominik Boehm, Niklas Reimer, Jan Christoph
article en

Abstract

Molecular tumor boards present special challenges when it comes to information collection for case preparation. It is one of the most time-consuming tasks participating pathologists and oncologists face, limiting the number of cases that can be discussed in these specialized tumor boards and in turn can profit from a potential highly personalized therapy. Digital support is a necessity to enable medical professionals to efficiently make use of the vast amount of data available for each patient and their genomic and clinical profile. This includes historically recommended therapies for patients with molecularly similar tumors. To combat this issue, we developed an extension for the MTB-cBioPortal in collaboration with clinicians, enabling users to access previously documented therapy recommendations combined with corresponding follow-up data based on HL7 FHIR profiles and modules established in the Medical Informatics Initiative (MII). The information is made available through an additional annotation in the MTB-cBioPortal patient view. In doing so we intend to improve the efficiency of the case preparation process for molecular tumor boards and lay the groundwork for a potential multicentric exchange of therapy recommendations and follow-up data.

Studies in health technology and informaticsVol. 327
Friedrich-Alexander-Universität Erlangen-Nürnberg (DE), Universitätsklinikum Erlangen (DE), University Hospital Schleswig-Holstein (DE), University of Regensburg (DE), Martin Luther University Halle-Wittenberg (DE), University of Lübeck (DE)
Friedrich-Alexander-Universität Erlangen-Nürnberg
Openalex Percentile: Top 79%
Biomedical Text Mining and Ontologies
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Building a Knowledge Base for Variant Annotation Using Therapy Recommendations in cBioPortal — Philipp Unberath, Alexander Scheiter, et al. · Studies in health technology and informatics (2025) | TGRS Research Map | TGRS