Project Title: Engineered CYP2C19 Cell Lines for point-of-care test (POCT) quality assessment The University of Manchester and EMQN
Pharmacogenomic (PGx) point-of-care tests (POCT) help doctors to choose the right drugs for treatment, based on a patient’s genes. When tests like these are developed, they are usually checked for quality, reliability and to see if they are working correctly for regulatory approval, using sample (reference) materials. However, there is an issue accessing reference materials which contain specific, rare, but important, genetic variants. Due to the rarity of these variants, it is difficult to obtain enough patient samples that contain them for this quality checking.
This project will create reference materials, using advanced genome editing (CRISPR Cas9) to make cell lines with important genetic variants of the CYP2C19 gene (which affects how people process certain drugs). It will also grow the existing library of these variants to include more clinically relevant ones and will combine these variants to mimic real patient genotypes in artificial samples like buccal swabs (cheek swabs). Through supporting the future quality assessment, testing and validation of these point-of-care diagnostics, the project also aims to help speed up regulatory approval and adoption of the tests into routine clinical practice and to lay the groundwork for expanding to other genes and tests in the future.
About the Industry Partner
EMQN CIC is a profit for purpose, Manchester-based organization dedicated to improving the quality of genomic testing worldwide. It provides internationally recognized External Quality Assessment (EQA) activities across molecular genetics, molecular pathology, pharmacogenetics, and other related fields.