Pharmacogenomics: Current Actionable Variants.

Area of Science:

• Pharmacogenomics
• Precision Medicine
• Clinical Pharmacology

Background:

• Pharmacogenomics (PGx) is a key component of precision medicine, slowly integrating into clinical practice.
• PGx implementation involves genotype-phenotype associations, validation studies, and data mining by consortia.
• Over 200 drug-gene pairs are classified, informing clinical guidelines and FDA drug recommendations.

Purpose of the Study:

• To outline the process of PGx implementation and guideline development.
• To list current actionable drug-gene pairs.
• To assess the status of PGx knowledge in Mexican populations for specific gene-drug pairs.

Main Methods:

• Literature review of PGx research and guidelines.
• Analysis of actionable drug-gene pairs and their documentation.
• Collection of allele frequency data for actionable variants in Mexican populations.

Main Results:

• Discussion of the steps involved in PGx guideline creation.
• Identification of 19 key genes and 47 drugs with actionable PGx variants.
• Compilation of allele frequency data and identification of PGx information gaps in Native and Mestizo populations.

Conclusions:

• PGx implementation is a multi-step process culminating in clinical guidelines.
• There are significant gaps in PGx knowledge for Mexican populations, particularly for Native and Mestizo groups.
• Further research is crucial to expand PGx utility in diverse populations.