3.3 Pharmacogenetic variants and their clinical relevance for
potential future medication
The frequencies of patients with a given number of identified PGx
variants of different PHARMGKB classifications and according
recommendations to adjust potential future pharmacotherapy are presented
in Figure 3 and Table 4 . The 16-gene panel identified
at least one “actionable”, “recommended“ or ”required” variant in
100% of the tested patients, and in 74.1% we found 2 or more
concomitant “actionable” variants. The prevalence of the highly
relevant “recommended” and “required” variants was lower. Still,
73.3% had one, and another 6.7% even two “recommended” variants,
38.5% one “required” variant, and 86.7% of all patients had at least
one “recommended” or “required” variant.
As shown in Table 4 , the median number of alerts regarding
clinically relevant PGx variants for potential future medication was 5
according to SONOGEN XP. Our reports provided a listing of those
recommendations as an attachment, but the actual personalized expert
assessments highlighted only those with the highest clinical relevance,
hence the median number of recommendations in our personalized clinical
reports was only 3 and therefore lower.