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CYP2C19HGNC PubMedPreemptive genotypingRecurrent variant

A primary care pharmacogenetic precision medicine pilot based on specific Māori tribal ethical frameworks and principles

Robertson SP, Halliday BJ, Tibble R, et al.J Community Genet 2026 · June 2026
Relevance score
6/10
Disease / domain
Primary care pharmacogenetics — Māori tribal ethical framework
Source
PubMed
PMID 42365224
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Gene–drug pair / mechanism

Extraction of *CYP2C19* variants from whole genomes correlated with dispensed medicines, within a dynamic consent framework co-designed with a Māori community

Summary

This pilot project demonstrates the feasibility of a primary care pharmacogenetic program co-designed with a Māori tribal community, via the Rakeiora platform integrating indigenous ethical frameworks. In 148 Māori participants, extraction of CYP2C19 variants from whole genomes shows 7% poor metabolizers and 11% rapid metabolizers for at least one drug. According to international guidelines, 40% of prescriptions could have benefited from knowledge of the CYP2C19 genotype. The community was supportive while wishing to retain dynamic consent mediated by trusted local figures.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Analysis

Beyond the pharmacogenetic figures, the value of this work is methodological: it shows how to build a PGx program that is acceptable and appropriate within an indigenous community, via co-designed dynamic consent. The 40% of potentially actionable prescriptions confirms the relevance of preemptive genotyping even in primary care. A model of equity and data governance transposable to other underrepresented populations.

Why this score?

Impact 2/3Evidence 2/3Novelty 1/2Sample 1/1Publication 0/1

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 6/10

Keywords

CYP2C19preemptive genotypingprimary careequityconsent

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