“Assessing the Underrepresentation of Diversity in Evaluating CYP2D6 Genotypes: A Study of 490,558 Genomes in the UK Biobank”

ASHG Abstract Presented by Xiao Jiang, AstraZeneca, Cambridge, United Kingdom

The following is a significant abstract released on Thursday, November 2, during the Annual American Association of Human Genetics meeting (ASHG 2023), being held in Washington, DC, November 1-5.

Researchers have found a scarcity of genomic data for individuals of non-European ancestry as well as limited information about how specific drugs are metabolized among these populations after studying how an important pharmacogene, CYP2D6, metabolizes drugs. These limitations mean that it is difficult to provide evidence-based advice about drug dose and treatment options for those with non-European ancestries. The research was done using 490,558 genomes from the United Kingdom Biobank. Prescription drug data was available for 222,068 participants and showed that 24.5% had been prescribed codeine, with 1.6% of those classified as either poor metabolizers (PMs) or ultra-rapid (UM) metabolizers for this gene. Further analysis revealed that those who are normal metabolizers (NM) or UMs had a higher risk of allergy to narcotics compared to PMs, while intermediate metabolizers (IMs), NMs, and UMs were associated with a higher risk for kidney stones. These findings illustrate the value of pharmacogenetic data and point to the need for more information from underrepresented groups and about specific drugs, which would in turn lead to more data about clinical outcomes.

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