Resources for Interpreting Variants in Precision Genomic Oncology Applications

Area of Science:

• Genomic Medicine
• Oncology
• Bioinformatics

Background:

• Precision genomic oncology, utilizing high-throughput sequencing (HTS) at the point-of-care, is an emerging precision medicine approach with increasing clinical adoption.
• Advancements in targeted therapies and immunotherapy offer benefits to patients with comprehensive genomic characterization.
• Identifying germline and somatic variants is established, but individual variant interpretation remains a significant challenge.

Purpose of the Study:

• To review data and software resources for interpreting genomic variants in oncology.
• To discuss tools for assessing variant clinical actionability and augmenting data for decision-making.
• To highlight resources for both ad hoc research sample analysis and formal clinical reporting platforms.

Main Methods:

• Review of existing variant catalogs.
• Assessment of variant and functional annotation software and tools.
• Compilation of databases for clinically actionable variants.

Main Results:

• A range of resources exist to aid in the interpretation of genomic variants.
• These tools facilitate the determination of clinical actionability and provide ancillary information.
• The reviewed resources can be applied in research settings or integrated into clinical reporting systems.

Conclusions:

• Effective interpretation of genomic variants is crucial for precision oncology.
• Available data and software resources support clinical decision-making and hypothesis generation.
• A systematic approach to variant interpretation enhances the utility of genomic data in patient care.