Requirements Analysis and Specification for a Molecular Tumor Board Platform Based on cBioPortal
Abstract
:1. Introduction
2. Materials and Methods
2.1. Details about Scoping Review
2.2. First and Second Round of Interviews
2.2.1. Structure and Purpose of the First Round of Interviews
2.2.2. Structure and Purpose of the Second Round of Interviews
- Localization and time of the sampling;
- Type of sampling (e.g., fine-needle aspiration biopsy);
- Distinction between fresh-frozen and formalin-fixed paraffin-embedded samples;
- Scope of sequencing (e.g., gene panel or whole-exome sequencing);
- Name and version of both the used panel and kit;
- Hyperlink to the corresponding product-specific website of the manufacturer.
2.3. Low-Fidelity Mockup Demonstrator
2.4. Consultation with Main Developers of MSKCC
2.5. Ethical Approval
3. Results
3.1. Overview of Scoped Review
3.2. Details about Interviewees
3.3. Requirements from the First Round of Interviews and Screenshot Mockups
- Highlight mutations with existing treatment options;
- Display information about general availability of a specific drug in Germany;
- Point out mutations causing treatment resistance;
- Mark germline mutations;
- Display variant allele frequencies alongside corresponding coverage;
- Integrate the database “Clinical Interpretations of Variants in Cancer” (CIViC) [19];
- Visualize mRNA expression data.
3.4. Consolidated Requirements from the Second Round of Interviews
3.4.1. Improving Patient Case Analysis
3.4.2. Supporting the Development and Recording of a Therapy Recommendation
3.4.3. Requirements for IT Infrastructure
4. Discussion
4.1. Results and Future Work
4.2. Related Work
4.3. Limitations
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
Abbreviations
API | Application programming interface |
cBioPortal | cBio Cancer Genomics Portal |
CIViC | Clinical Interpretation of Variants in Cancer (knowledgebase) |
CNV | Copy Number Variation |
EHR | Electronic Health Record |
EMA | European Medicines Agency |
FHIR | Fast Healthcare Interoperability Resources |
GIMP | GNU Image Manipulation Program |
gnomAD | Genome Aggregation Database |
HIS | Hospital Information System |
IT | Information technology |
JAX-CKB | Jackson Laboratory Clinical Knowledgebase |
JSON | JavaScript Object Notation |
MIRACUM | Medical Informatics in Research and Care in University Medicine |
MSKCC | Memorial Sloan Kettering Cancer Center |
MTB | Molecular Tumor Board |
NGS | Next-generation sequencing |
PRISMA | Preferred Reporting Items for Systematic Reviews and Meta-Analysis |
RFC | Request for Comments |
TMB | Tumor Mutational Burden |
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Buechner, P.; Hinderer, M.; Unberath, P.; Metzger, P.; Boeker, M.; Acker, T.; Haller, F.; Mack, E.; Nowak, D.; Paret, C.; et al. Requirements Analysis and Specification for a Molecular Tumor Board Platform Based on cBioPortal. Diagnostics 2020, 10, 93. https://doi.org/10.3390/diagnostics10020093
Buechner P, Hinderer M, Unberath P, Metzger P, Boeker M, Acker T, Haller F, Mack E, Nowak D, Paret C, et al. Requirements Analysis and Specification for a Molecular Tumor Board Platform Based on cBioPortal. Diagnostics. 2020; 10(2):93. https://doi.org/10.3390/diagnostics10020093
Chicago/Turabian StyleBuechner, Philipp, Marc Hinderer, Philipp Unberath, Patrick Metzger, Martin Boeker, Till Acker, Florian Haller, Elisabeth Mack, Daniel Nowak, Claudia Paret, and et al. 2020. "Requirements Analysis and Specification for a Molecular Tumor Board Platform Based on cBioPortal" Diagnostics 10, no. 2: 93. https://doi.org/10.3390/diagnostics10020093
APA StyleBuechner, P., Hinderer, M., Unberath, P., Metzger, P., Boeker, M., Acker, T., Haller, F., Mack, E., Nowak, D., Paret, C., Schanze, D., von Bubnoff, N., Wagner, S., Busch, H., Boerries, M., & Christoph, J. (2020). Requirements Analysis and Specification for a Molecular Tumor Board Platform Based on cBioPortal. Diagnostics, 10(2), 93. https://doi.org/10.3390/diagnostics10020093