Fig. 2

Predicted pharmacogene phenotype variability (left) across Orcadian and Shetlander study populations in Viking Genes and the proportion of participants that may benefit from genomics-informed drug therapy (right). The phenotypes were predicted from variants and/or star alleles called in the study based on published guidelines by the Clinical Pharmacogenetics Consortium (CPIC; https://cpicpgx.org/guidelines). The projected PGx-guided drug dosing recommendations were also based on CPIC guidelines. For example, for ABCG2, a combined 0.8% of the study participants in Orkney and Shetland were predicted to have poor ABCG2 function, while 15.4% were predicted to have decreased ABCG2 function. The CPIC guideline for ABCG2 and rosuvastatin recommends a reduced starting dose of ≤20 mg (and adjustment based on disease-specific and population-specific guidelines) for the individuals with poor ABCG2 function, but not for the individuals with decreased ABCG2 function. Therefore, while the left half of the figure is intended to highlight the variability in the predicted phenotype proportions in Shetland and Orkney, the right half of the figure is meant to summarise what proportions of individuals (per gene-drug pair) are projected to potentially require change in drug/dose if pharmacogenetic testing and CPIC guidelines were to be leveraged.