Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities

Area of Science:

• Genomic Medicine
• Pharmacogenomics

Background:

• Pharmacogenomics, rooted in basic science since the 1960s, has been integrated into clinical practice through interdisciplinary collaboration.
• Laboratory testing for pharmacogenomics, particularly for genes like CYP2D6, HLA-A, and HLA-B, is complex due to high polymorphism and gene homology.

Purpose of the Study:

• To review the evolution of clinical laboratory testing in pharmacogenomics.
• To discuss standardization efforts and the shift towards sequencing-based methods.
• To explore future developments in pharmacogenomics and genomic medicine.

Main Methods:

• Review of the historical development of pharmacogenomic testing methods.
• Analysis of current standardization and reporting practices.
• Speculation on emerging technologies and approaches in pharmacogenomics.

Main Results:

• Testing methods have advanced from targeted genotyping to multiplex panels, with sequencing on the horizon.
• Standardization of targets, nomenclature, and reporting is crucial for clinical implementation.
• Challenges remain in classifying rare variants from sequencing and managing complex gene loci.

Conclusions:

• The transition to sequencing-based pharmacogenomics requires robust systems for rare variant classification.
• Harmonization with broader genomic medicine is essential for realizing personalized medicine's full potential.
• Future directions include pharmacoepigenetics, non-coding variant analysis, and polygenic risk assessment.