Genomics in clinical practice: lessons from the front lines.

Area of Science:

• Genomics
• Clinical Medicine
• Laboratory Science

Background:

• The decreasing cost of whole-genome sequencing (WGS) and whole-exome sequencing (WES) enables their application in clinical settings.
• Genomic technologies are transitioning from research to routine clinical practice.

Purpose of the Study:

• To describe the process and challenges of converting a research-focused sequencing laboratory into a clinical-grade program.
• To share practical insights and lessons learned from this transition.

Main Methods:

• The study outlines the strategic and operational steps involved in adapting a research sequencing laboratory for clinical applications.
• Key considerations include quality control, data management, regulatory compliance, and workflow optimization.

Main Results:

• Successful conversion requires addressing infrastructure, personnel training, and standardized protocols.
• The transition involves significant changes in laboratory operations to meet clinical standards.

Conclusions:

• Whole-genome and exome sequencing are viable for clinical applications.
• Establishing a clinical sequencing program requires careful planning and execution, based on lessons learned from research-to-clinical transitions.