Thiopurine S-methyltransferase testing for averting drug toxicity in patients receiving thiopurines: A systematic review and quality appraisal

Roy LM, Ungar WJ, Zur RM
Record ID 32015001121
Authors' objectives: The objectives of this study were to systematically review the literature on the performance characteristics of thiopurine for Thiopurine S-methyltransferase (TPMT) deficiency, to appraise the quality of the literature and to identify the characteristics of high quality studies.
Authors' recommendations: There is a growing use of personalized medicine applications such as pharmacogenomics in clinical diagnostics and clinical decision-making for selection of drug treatment and dose. This review of the literature comparing phenotype testing and genotype testing for TPMT status demonstrated a broad base of evidence these tests. The quality of the studies for assessing diagnostic test accuracy was mixed. The low prevalence of patients with deficient TPMT activity or homogeneous TPMT mutations made estimates of sensitivity of the tests uncertain. The accuracy of genotyping is also affected by the range of polymorphisms included in the test. Routine testing for all possible polymorphisms is more costly and unlikely to be feasible for health care institutions. Nevertheless, clinical and institutional decision-makers require high quality evidence of clinical validity and clinical utility of TPMT genotyping technologies to ensure appropriate and consistent use in patient populations who would benefit from this testing.
Project Status: Completed
Year Published: 2015
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Canada
MeSH Terms
  • Humans
  • Methyltransferases
  • Drug-Related Side Effects and Adverse Reactions
  • Purine Nucleosides
Organisation Name: Technology Assessment at SickKids
Contact Address: Program of Child Health Evaluative Sciences, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8 tel: (416) 813-8519 fax: (416) 813-5979
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Copyright: The Hospital for Sick Children Research Institute
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.