Pharmacogenomic Testing: Strategies and Technical Considerations for Clinical Laboratories

Area of Science:

• Clinical Laboratory Science
• Pharmacogenomics
• Molecular Diagnostics

Background:

• Clinical laboratories are increasingly adopting pharmacogenomic (PGx) testing.
• PGx testing presents unique considerations compared to other genetic tests.

Purpose of the Study:

• To guide clinical laboratories in implementing PGx testing.
• To describe PGx test design, validation, and reporting.
• To highlight resources for PGx testing in laboratories.

Main Methods:

• A workgroup was formed by the College of American Pathologists with expertise in clinical PGx testing.
• Representatives from the Association for Molecular Pathology and the American College of Medical Genetics and Genomics participated.
• The workgroup reviewed literature and experiences from proficiency testing and member laboratories.

Main Results:

• Recommendations for PGx testing implementation include platform selection, gene/variant choice, reference materials, nomenclature, genotype-to-phenotype translation, and reporting strategies.
• Considerations for using vendor reporting tools are discussed, emphasizing the laboratory's responsibility.
• Standardization of nomenclature and reporting is crucial for reliable PGx results.

Conclusions:

• Laboratories must understand PGx fundamentals and meet regulatory requirements.
• Adherence to recommendations for standardized nomenclature and reporting is essential.
• Successful PGx implementation requires careful attention to test design, validation, and reporting practices.