Figure 2

Example of a simple Punnett square providing general rules for assignment of predicted drug-specific response phenotypes for a particular drug-metabolizing pharmacogenomics (PGx) gene. Annotation of pharmacokinetics/pharmacodynamics (PK/PD) outcome: EM, extensive metabolizers; IM, intermediate metabolizers; PM, poor metabolizers; UM, ultra-rapid metabolizers; unknown, drug metabolizing phenotype currently unknown. Note that for other types of PGx genes such as drug transporters, the PK/PD phenotype can be similarly annotated in the Punnett square table, for example as ‘normal’ for normal transport; ‘decreased’ for reduced transport; and ‘increased’ for increased transport. Annotation of the associated clinical outcome: shades of blue indicate ‘normal’ response to the drug; yellow, most extreme adverse drug reaction (ADR) or altered efficacy resulting from deficiency or reduced function/activity of the PGx protein product; orange, clinically distinct or milder adverse drug reaction/altered efficacy resulting from protein deficiency or reduced function; purple, distinct ADR or altered efficacy resulting from excess or increased function of the protein product; pink, unknown phenotype for the defined diplotype. The group of diplotypes with unknown phenotype represent a gap in knowledge where further research is warranted.