Quality Control Materials for Pharmacogenomic Testing: Current Sources and Future Needs
This review surveys available quality control materials for clinical pharmacogenomic assays, from cell-line-derived reference samples to novel synthetic approaches that can mimic patient specimens. It highlights the difficulty of obtaining well-characterised QC materials for rare alleles and complex structural variants, particularly for NGS-based platforms. For laboratories implementing or validating PGx tests, the paper provides a practical guide to QC sourcing and identifies gaps that need industry attention.
The original study
Quality control materials for pharmacogenomic testing in the clinic.
- Authors
- Lin G, Zhang K, Han Y, Li J
- Journal
- Clinical chemistry and laboratory medicine
- Type
- Journal Article, Review
- PMID
- 27845879
Original abstract
Pharmacogenomics has significantly added to our understanding of drug responses in clinical pharmacology, changing the paradigm of treatment decisions. Interrogations of both inherited and somatic variations for therapeutic purposes are increasingly being adopted in clinics, where quality control (QC) materials are required. However, for many pharmacogenomic tests, the acquisition of well-characterized QC materials is often difficult or impossible. In this review, several sources of appropriate QC materials for therapy-associated genetic testing are discussed. Among them, the novel methods for producing renewable controls that resemble patient samples are highlighted. Owing to technological complexity, more efforts are needed to develop proper controls for next-generation sequencing-based assay.