Pharmacogenomics

A pharmacogenomic report typically analyzes variants in selected genes with known medication-related associations. Some genes encode enzymes that metabolize compounds; others influence transporters, receptors, or immune recognition. The report may translate combinations of variants into a predicted phenotype, but the applicable evidence and confidence vary by gene and medication.

Genetics is only one part of medication response. Age, organ function, other medications, adherence, clinical context, and environmental factors can also matter. A test may not include every relevant variant, and a result for one medication should not be generalized to an unrelated one.

Pharmacogenomics is narrower than broad genomic testing because it is organized around medication-related questions. Reports can use specialized vocabulary such as allele, haplotype, metabolizer status, or copy number. Those labels need the laboratory method and current professional interpretation attached; they are not instructions for independently changing medication.

Some reports distinguish pharmacokinetic relationships, concerning what the body does with a compound, from pharmacodynamic relationships, concerning targets and effects. A predicted category may apply only under specified circumstances. The original test scope and evidence level should accompany any label.

Some genes are reported with star-allele names that represent combinations of variants inherited together. Translating those combinations into a predicted functional category depends on which variants and copy-number changes the assay can detect, as well as the interpretation system used.

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