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TPMT and NUDT15 testing for thiopurine therapy: A major tertiary hospital experience and lessons learned

Liuh Ling Goh, Chia Wei Lim, Khai Pang Leong, Kiat Hoe Ong

2022Frontiers in Pharmacology14 citationsDOIOpen Access PDF

Abstract

genetic testing for clinical use and evaluated the utilization, service outcomes and potential value of multi-gene PGx testing for 210 patients that underwent pharmacogenetics (PGx) testing for thiopurine therapy with the aim to optimize service delivery for future prescribing. The test was most commonly ordered for Gastroenterology (40.0%) and Neurology (31.4%), with an average turnaround time of 2 days. Following testing, 24.3% patients were identified as intermediate or poor metabolizers, resulting in 51 recommendations for a drug or dose change in thiopurine therapy, which were implemented in 28 (54.9%) patients. In the remaining patients, 14 were not adjusted and 9 had no data available. Focusing on drug gene interactions available for testing in our laboratory, multi-gene PGx results would present opportunities for treatment optimization for at least 33.8% of these patients who were on 2 or more concurrent medications with actionable PGx guidance. However, the use of PGx panel testing in clinical practice will require the development of guidelines and education as revealed by a survey with the test providers. The evaluation demonstrated successful implementation of single gene PGx testing and this experience guides the transition to a pre-emptive multi-gene testing approach that provides the opportunity to improve clinical care.

Topics & Concepts

Thiopurine methyltransferaseMedicinePharmacogeneticsGenetic testingDosingDrugPharmacologyIntensive care medicineBioinformaticsInternal medicineGeneAzathioprineGeneticsBiologyGenotypeDiseaseAcute Lymphoblastic Leukemia researchChildhood Cancer Survivors' Quality of LifeAdolescent and Pediatric Healthcare
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