The scientific background
The scientific background to where regulatory guidelines stand is three-fold: Pharmacogenetic testing has its origin in international, evidence-based genotyping laboratories – the CLIO laboratories. In cooperation with The American Association of Pathology these laboratories set “the golden standard” for what, where at the genome and how precisely the lab technicians must genotype to find a correct answer. CLIO and Coriell laboratories also deliver reference cell-lines used for lab validations all over the world including to Genetelligence.
Data from these laboratories are the basis for the Pharmacogenomics Knowledge Base (PharmGKB), which is a knowledge resource, that encompasses clinical information, including clinical guidelines and drug labels, potentially clinically actionable gene-drug associations, and genotype-phenotype relationships.
The knowledge from PharmGKB is used by the Clinical Pharmacogenetics Implementation Consortium (CPIC), which is an international consortium of experts, and a dedicated staff at Stanford Univesity, USA, who are interested in facilitating the use of pharmacogenetic tests for patient care.
CPIC publishes freely available, peer-reviewed, evidence-based, updatable, and detailed gene-drug clinical practice guidelines following standardized formats
- Systematic grading of evidence and clinical recommendations using standardized terminology.
- Peer-reviewed scientific findings
- Published in a leading journal (in partnership with Clinical Pharmacology and Therapeutics with simultaneous posting to www.cpicpgx.org)
U.S. Food and Drug Administration, and the European Medicines Agency use the CPIC guidelines in their recommendations of drugs in relation to pharmacogenetic testing. The Authorities publish lists of medications with “actionable guidelines”, with pharmacogenomic information e.g., specific actions to be taken based on the biomarker information.