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FDA Releases Guidance Document to Harmonize PGx Research Terms

NEW YORK (GenomeWeb News) – Seeking to provide internationally harmonious regulatory foundations for personalized medicine studies, the US Food and Drug Administration today issued a guidance document covering definitions for pharmacogenomics and pharmacogenetics.
The FDA said that this glossary of definitions will be in harmony with that of the European Union and Japan, and that it is “intended to facilitate the integration of the discipline of pharmacogenomics and pharmacogenetics into global drug development and approval processes.”
As part of its efforts to regulate drugs and drug research, the FDA said, “it is important to ensure that consistent definitions of terminology are being applied across all constituents of the International Conference on Harmonization.”
The FDA said in the guidance document that it defines pharmacogenomics as simply “the study of variations of DNA and RNA characteristics as related to drug response.”
Pharmacogenetics, the agency said, is “the study of variations in DNA sequence as related to drug response.”
The guideline also offers harmonized definitions for four general coding categories of biological samples used to generate data in pharmacogenomic and pharmacogenetic studies including identified, coded, anonymized, and anonymous.
Researchers should consider the implications of using such specific data and sample coding categories when they design their pharmacogenomics and pharmacogenetic studies, the FDA advised.
A genomic biomarker is defined by the guidance as a “measurable DNA or RNA characteristic that is an indicator of normal biologic, pathogenic processes, and/or a response to therapeutic or other interventions,” the FDA said. A biomarker could be a measurement of the expression of a gene, the function of a gene, or the regulation of a gene, the agency said.
DNA characteristics could include, but are not limited to: single nucleotide polymorphisms; variability of short sequence repeats; haplotypes; DNA modifications such as methylation; deletions or insertions of single nucleotides; copy number variations; and cytogenetic rearrangements, such as translocations, duplications, deletions, or inversions.
Similarly, RNA characteristics include, but are not limited to: RNA sequences; RNA expression levels; RNA processing, such as splicing and editing; and microRNA levels.
Under the new guidance, a genomic biomarker is not limited to human samples, and includes samples from viruses, infectious agents, and animal samples. The FDA does not consider a genomic biomarker to include the measurement and characterization of proteins or low-molecular-weight metabolites.
The definitions were issued by the FDA’s Center for Drug Evaluation and Research and the Center for Biologics Evaluation and Research.
In the guidance document, entitled “E15 Definitions for Genomic Biomarkers, Pharmacogenomics, Pharmacogenetics, Genomic Data and Sample Coding Categories,” the FDA also laid the framework intended to harmonize four general coding categories of biological samples that are used to generate data in pharmacogenomic and pharmacogenetic research.
The FDA specifically said that these guidelines “should only be viewed as recommendations,” and that they reflect “current thinking” on the subject. This means these definitions are currently only suggested or recommended and are not required.
The agency also said it expects it may review and expand this guidance as the disciplines of pharmacogenomics and pharmacogenetics advance.
The guidance was developed within the International Conference on Harmonization’s Technical Requirements for Registration of Pharmaceuticals for Human Use working group.

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