Opportunities, resources, and techniques for implementing genomics in clinical care

Area of Science:

• Genomics
• Clinical Genetics
• Translational Science

Background:

• Genomic variation assessment technologies have advanced significantly.
• Understanding of genomic variants' impact on health and disease is growing.
• Genomics is transitioning from research to clinical practice.

Purpose of the Study:

• To describe clinically important genomic variation types and measurement tools.
• To review genomic sequence variant interpretation approaches.
• To identify resources for genomic test interpretation and discuss implementation barriers.

Main Methods:

• Review of current technologies for assessing genomic variation.
• Analysis of established approaches for interpreting genomic sequence variants.
• Identification of publicly available tools and resources for clinical genomics.

Main Results:

• Major types and measurement tools of clinically relevant genomic variation are detailed.
• Approaches to interpreting genomic sequence variants are reviewed.
• Publicly available resources for genomic test interpretation are identified.

Conclusions:

• Genomic medicine is increasingly integrated into routine clinical practice.
• Applications include disease risk assessment, rare disease diagnosis, and pharmacogenomics.
• Barriers to routine genomic information use in clinical practice are discussed.