Clinical Utility and Cost‐Effectiveness of Pretreatment NUDT15 Pharmacogenetic Testing to Prevent Thiopurine‐Induced Myelosuppression: A Genotype‐First Reverse Phenotyping Cohort Study Within the UK NIHR Inflammatory Bowel Disease Bioresource

Abstract excerpt

BACKGROUND: The clinical utility and cost-effectiveness of pre-thiopurine NUDT15 pharmacogenetic testing in European and admixed populations are unknown. AIMS: To report the prevalence, penetrance, expressivity, and pathogenicity of NUDT15 variant allele carriage and the diagnostic accuracy and cost-effectiveness of an inexpensive loop-mediated isothermal amplification (LAMP) test. METHODS: Retrospective...

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