Genomic testing: the clinical laboratory perspective

Area of Science:

• Clinical laboratory science
• Genomics
• Molecular diagnostics

Background:

• Genetic testing is increasingly utilized in clinical settings.
• Technological advancements are driving the evolution of genetic analysis methods.

Purpose of the Study:

• To outline the progression of genetic testing in clinical laboratories.
• To discuss the shift towards more comprehensive genomic analyses.
• To identify remaining challenges in adopting whole-genome testing.

Main Methods:

• Review of current trends in clinical genetic testing.
• Analysis of the impact of sequencing technology efficiency and cost.
• Discussion of the transition from single-gene to multigene panels and whole-genome sequencing.

Main Results:

• Clinical laboratories are transitioning from single-gene tests to multigene panels.
• Comprehensive genomic offerings, including exome and whole-genome analysis, are emerging.
• Despite advancements, obstacles hinder the full incorporation of whole-genome testing.

Conclusions:

• The field of genetic testing is rapidly advancing towards broader genomic applications.
• The transition to more comprehensive testing is driven by technological improvements.
• Further efforts are needed to overcome existing barriers for widespread whole-genome testing adoption.