Included below are two recent publications in which researchers have used data from the 1000 Genomes Project to study pharmacogenetics, which focuses on genetic variants that affect how patients respond to medication. Clinicians can use this genetic information to improve the type and amount of medication they give to their patients.
In the first study, researchers used 1000 Genomes Project data to study genetic variation in the gene CYP1A2. CYP1A2 is needed for patients to metabolize many medications, including medications used to treat psychosis and depression. The research team studied CYP1A2 genetic variants and provided an updated nomenclature system for researchers that study how these variants affect treatment and for clinical laboratories that perform patient testing.
For more information
PharmVar GeneFocus: CYP1A2—Clinical Impact, Genetic Variation, and Updated Nomenclature.
Clinical Pharmacology & Therapeutics, 2026 | https://doi.org/10.1002/cpt.70286
In the second study, researchers used 1000 Genomes Project data and samples to develop a new clinical genetic test for the gene, CYP3A5. CYP3A5 is needed to process tacrolimus, which is a medication that suppresses patient immune systems to prevent transplanted organ rejection. The new test was shown to be accurate in an independent set of patient DNA samples.
For more information
A Novel Laboratory-Developed Test Using Multiplex qPCR to Further Personalize Tacrolimus Dosing.
International Journal of Molecular Sciences | https://doi.org/10.3390/ijms27135917
