Validation of diagnostic screening test for pharmacogenomic targets for thiopurine drugs in indian pediatric acute lymphoblastic leukemia patients
The validated ARMS-PCR assay provides a reliable, rapid, and cost-effective platform for simultaneous <i>NUDT15</i> and <i>TPMT 3C</i> genotyping, demonstrating strong concordance with sequencing and clear clinical relevance. Its affordability and minimal infrastructure requirements make it suitable for integration into routine pre-treatment workflows in India, enabling genotype-guided thiopurine dosing and reducing the risk of treatment-related toxicity. This assay supports a scalable path toward equitable implementation of pharmacogenomics in resource-limited pediatric oncology settings.
Authors
- George Joseph (ORCID: https://orcid.org/0000-0002-3805-9644)
- Amit Kumar Singh (ORCID: https://orcid.org/0000-0002-5564-3236)
- Saurabh Sharma (ORCID: https://orcid.org/0000-0001-6744-5846)
- Aroonima Misra (ORCID: https://orcid.org/0000-0003-2884-3600)
- Pranay Tanwar
- Raj Kamal (ORCID: https://orcid.org/0000-0002-7138-6313)
- Manpreet Kaur (ORCID: https://orcid.org/0000-0002-2288-4420)
- Sandeep Kumar Swain (ORCID: https://orcid.org/0000-0002-2782-6959)
- Himanshu Dhanda
- Prashant Prabhakar
- Sufian Zaheer (ORCID: https://orcid.org/0000-0002-8044-4327)
- Bhavika Rishi (ORCID: https://orcid.org/0000-0002-5367-6050)
- Sujit Kumar Verma (ORCID: https://orcid.org/0000-0002-7927-7365)
- Amitabh Singh (ORCID: https://orcid.org/0000-0002-4440-5339)
- Ujjwal Kaushik (ORCID: https://orcid.org/0009-0000-3110-2382)
- Baseer Noor (ORCID: https://orcid.org/0009-0003-0564-1675)
- Sumita Chaudhry (ORCID: https://orcid.org/0000-0003-1964-2014)
- Tejas Somwanshi
Institutions
- Manipal Academy of Higher Education (IN)
- Vardhman Mahavir Medical College & Safdarjung Hospital (IN)
- Jamia Hamdard (IN)
- Indian Council of Medical Research (IN)
- National Institute of Child Health (PK)
- DR. B.R.A. Institute Rotary Cancer Hospital (IN)
- Institute of Medical Sciences (IN)
- All India Institute of Medical Sciences (IN)
Publication Details
- Journal
- Frontiers in Pharmacology
- Published
- 2025-12-08
- DOI
- https://doi.org/10.3389/fphar.2025.1714797
- Primary Topic
- Acute Lymphoblastic Leukemia research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Postgraduate Institute of Medical Education and Research, Chandigarh
- National University of Defense Technology