Table 2 Participant diplotype results exhibiting discordance between the commercial targeted genotyping panel and WGS

From: A call for increased inclusivity and global representation in pharmacogenetic testing

 

Self-reported ethnicity

Commercial panel diplotype

Metabolizer status from the commercial panel

WGS diplotype

Metabolizer status from WGS

Participant A

North European and Jewish Ashkenazi

CYP2C19*1/*1

Normal metabolizer

CYP2C19*1/*37 [no function]1

Intermediate metabolizer

Participant B

South Asian

CYP2C9*3/*1

Intermediate metabolizer

CYP2C9*3/*14 [decreased function]1

Poor metabolizer

CYP2C19*1/*1

Normal metabolizer

CYP2C19*1/*34 [uncertain function]a

Unknown

Participant C

Jamaican

CYP2C19*1/*1

Normal metabolizer

CYP2C19*1/*22 [no function]a

Intermediate Metabolizer

  1. WGS whole genome sequencing.
  2. aFunctionality information in square brackets refers to the discordant allele. CYP2C9*1 and CYP2C19*1 are wild-type alleles that exhibit normal function. CYP2C9*3 is a decreased function allele.
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