Page 244 - Personalised medicine of fluoropyrimidines using DPYD pharmacogenetics Carin Lunenburg

Chapter 9
A large variation in confirmation practice was observed (Supplemental Figure 4). The specific answer ‘one technician using the same technique on two independent days’ was only given by European laboratories.
Answers from ‘other’ included e.g. “use of a heterozygous positive control DNA” or “two persons judge the result”, which we consider as part of the genetic analysis or regular checks, not confirmation methods. Supplemental Figure 4 shows the diversity in answers.
Participants from RfB (N=460)
Participants from SKML(N=16)
Do not test for DPYD (N=397)
Responders (N=6)
Test for DPYD (N=63)
Responders (N=17)
Responders (N=12)
Total responders (N=34) (-1 duplicate)
Supplemental Figure 1. Invited laboratories and responders
Overview of invited laboratories and responders to the questionnaire.
100% 75% 50% 25% 0%
DPYD*2A (rs3918290) DPYD*13 (rs55886062)
c.2846A>T (r s67 376798)
c.1236G>A none (r s56 038477)
other
DPYD variants genotyped
Supplemental Figure 2. Different DPYD SNPs tested in PGx
Overview of 34 responders, shown as percentages. ‘Other’ includes: c.496A>G (rs2297595), DPYD*4 (rs1801158), DPYD*6 (rs1801160), c.1129-5923C>G (rs75017182 ), DPYD*7 (rs72549309), Y186C (rs115232898).
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Percentage of total responders