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. Author manuscript; available in PMC: 2014 Mar 18.
Published in final edited form as: Pharmacogenomics. 2012 Jan;13(2):201–212. doi: 10.2217/pgs.11.179

Table 4. The pharmacogenomic information pipeline.

Level of establishment Current number of described loci
with variation that have reached
that level (order of magnitude)
Level 1: identification of variation – experimental identification and validation of a human gene
variant, submission to a gene variant database, annotation, description and uniform
identification of the gene variant as a reference sequence or Locus Reference Genomic entry [27]
4 × 107
(number of human RefSNP clusters in
dbSNP)
Level 2: clinical genotype–phenotype association – clinical studies of phenotypes associated with
genetic variants (e.g., drug response), deposition in genotype-to-phenotype databases
104
(estimate)
Level 3: approval/recognition – recognition of the clinical significance of the genotype–phenotype
association by some authority, for example, mention of impact of genetic variants in package
inserts, approval of drugs for patients with specific genotype, clinical validation of companion
diagnostics and modification of a national clinical guideline to contain genotype-based
decision-making
102
(estimate based on number of US FDA
product labels containing
pharmacogenomic information [139]
Level 4: significant clinical application – application in clinical practice, possibly recognized as
relevant by payers (reimbursement of diagnostic tests, requirement of testing for reimbursement
of certain treatments). Implementation of pharmacogenomic guidelines in clinical decision
support systems
101
(number of widely documented
examples such as warfarin or
Herceptin®)
Level 5: surveillance – monitoring of benefit, risk and cost associated with the implementation of
a specific pharmacogenomic guideline in clinical practice
?
(surveillance not yet established)

We can conceptualize the translation of a pharmacogenomic finding from research (raw data) into practice (established clinical rules that can be implemented in decision support systems) as a continuum with several levels.