Thiopurine S-methyltransferase testing for averting drug toxicity in patients receiving thiopurines: a systematic review

Thiopurine S-methyltransferase (TPMT) testing is used in patients receiving thiopurines to identify enzyme deficiencies and risk for adverse drug reactions. It is uncertain whether genotyping is superior to phenotyping. The objectives were to conduct a systematic review of TPMT-test performance stud...

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Bibliographic Details
Published in:Pharmacogenomics 2016-04, Vol.17 (6), p.633-656
Main Authors: Roy, Lilla M, Zur, Richard M, Uleryk, Elizabeth, Carew, Chris, Ito, Shinya, Ungar, Wendy J
Format: Article
Language:English
Subjects:
Adolescent
Adult
Drug-Related Side Effects and Adverse Reactions - genetics
Female
Genetic Testing - methods
Genotype
Genotype & phenotype
Genotypes
Genotyping
Humans
Male
Methyltransferase
Methyltransferases - genetics
Mutation - genetics
Phenotype
Phenotypes
Phenotyping
Sensitivity and Specificity
Systematic review
Thiopurine S-methyltransferase
Toxicity
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Summary:Thiopurine S-methyltransferase (TPMT) testing is used in patients receiving thiopurines to identify enzyme deficiencies and risk for adverse drug reactions. It is uncertain whether genotyping is superior to phenotyping. The objectives were to conduct a systematic review of TPMT-test performance studies. Electronic and grey literature sources were searched for studies reporting test performance compared with a reference standard. Sixty-six eligible studies were appraised for quality. Thirty phenotype-genotype and six phenotype-phenotype comparisons were of high quality. The calculated sensitivity and specificity for genotyping to identify a homozygous mutation ranged from 0.0-100.0% and from 97.8-100.0%, respectively. Clinical decision-makers require high-quality evidence of clinical validity and clinical utility of TPMT genotyping to ensure appropriate use in patients.
ISSN:1462-2416
1744-8042
DOI:10.2217/pgs.16.12