An integrated clinical and genomic information system for cancer precision medicine

Increasing affordability of next-generation sequencing (NGS) has created an opportunity for realizing genomically-informed personalized cancer therapy as a path to precision oncology. However, the complex nature of genomic information presents a huge challenge for clinicians in interpreting the pati...

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Bibliographic Details
Published in:BMC medical genomics 2018-04, Vol.11 (Suppl 2), p.34-34, Article 34
Main Authors: Jang, Yeongjun, Choi, Taekjin, Kim, Jongho, Park, Jisub, Seo, Jihae, Kim, Sangok, Kwon, Yeajee, Lee, Seungjae, Lee, Sanghyuk
Format: Article
Language:English
Subjects:
Analysis
Cancer
Copy number variations
DNA sequencing
Gene expression
Genetic aspects
Genomic medicine
Information system
Oncology
Personalized medicine
Precision medicine
Software
Targeted therapy
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Summary:Increasing affordability of next-generation sequencing (NGS) has created an opportunity for realizing genomically-informed personalized cancer therapy as a path to precision oncology. However, the complex nature of genomic information presents a huge challenge for clinicians in interpreting the patient's genomic alterations and selecting the optimum approved or investigational therapy. An elaborate and practical information system is urgently needed to support clinical decision as well as to test clinical hypotheses quickly. Here, we present an integrated clinical and genomic information system (CGIS) based on NGS data analyses. Major components include modules for handling clinical data, NGS data processing, variant annotation and prioritization, drug-target-pathway analysis, and population cohort explorer. We built a comprehensive knowledgebase of genes, variants, drugs by collecting annotated information from public and in-house resources. Structured reports for molecular pathology are generated using standardized terminology in order to help clinicians interpret genomic variants and utilize them for targeted cancer therapy. We also implemented many features useful for testing hypotheses to develop prognostic markers from mutation and gene expression data. Our CGIS software is an attempt to provide useful information for both clinicians and scientists who want to explore genomic information for precision oncology.
ISSN:1755-8794
1755-8794
DOI:10.1186/s12920-018-0347-9