Clinical use of pharmacogenetic data

The American Association for Clinical Chemistry has posted draft guidelines from the National Academy of Clinical Biochemistry for clinical use of pharmacogenetic data, "Guidelines and Recommendations for Laboratory Analysis and Application of Pharmacogenetics to Clinical Practice (PDF; the committee members are listed here).

The guideline objectives:

"... to provide a systematic rigorous assessment of the discipline of pharmacogenetics as it applies to clinical laboratory testing and its application to clinical practice. Issues to be addressed will be: methodological (pre-analytical and analytical) considerations, standardization and quality assurance of testing; selection of appropriate PGx testing profiles; recommended reporting of test results and interpretation; standards needed for demonstration of clinical utility and efficacy; and, regulatory and other recommendations for effective use of pharmacogenetic information in a clinical setting."

The document is still in progress and is currently going through an open-comment phase to solicit outside reaction and opinion about its current direction.

If, like me, you need a quick refresher about what pharmacogenetics encompasses, this definition from the American Association of Pharmaceutical Scientists may help:

"Pharmacogenetics is the study of genetic causes of individual variations in drug response; pharmacogenomics more broadly involves genome-wide analysis of the genetic determinants of drug efficacy and toxicity. Primary candidate genes of interest include those encoding for drug receptors, metabolizing enzymes, and transporters. However, selection of optimal drug therapy may also involve disease susceptibility genes indirectly affecting drug response. Moreover, pharmacogenomics includes the identification of suitable targets for drug discovery and development" (Source).

The topic also has its own Medical Subject Heading and a quick search of pharmacogenetics returns 1000s of documents (e.g. this editorial from the Medical Journal of Australia).

This overview in the NCBI Science Primer also gives a very good introduction to the concept and its potential impact on how drugs are developed and prescribed in the future, exciting stuff.