Much different are things for what concerns pharmacogenomics
since the scientific evidence of the association between certain genetic
variant(s) and the response to a drug can be sometime controversial. It can
happen so that a genetic variant found to be significantly associated with high
sensitivity to a certain treatment in one study, is found to be of no pharmacogenomic
relevance in another reseach. In extreme cases a certain genetic variant is
found to exert a total opposite effect from another author. This issue of controversial evidence is still
a major obstacle to the diffusion of pharmacogenetic testing in daily routine
since it mostly affects the trust of health professionals in pharmacogenomic
solutions.
However, it must be said that in certain cases
pharmacogenomic correlations have been well characterized and replicated by
several independent studies. In such cases the pharmacogenomic evidence has been
coded into clinical practice guidelines by known working groups of specialists
(see for instance the guidelines from the Clinical Pharmacogenetics
Implementation Consortium - CPIC, www.pharmagkb.org/page/cipc, the Royal Dutch Association for the Advancement
of Pharmacy-Pharmacogenetics Working Group – KNMP-PWG, the EGAPP working group or the ACMG). By
following these guidelines, health care operators can confidently take
decisions in drug selection and dose adjustment.
An example of pharmacogenomic evidence successfully
confirmed and applied in daily clinical practice is the one between the allele
B*5701 in the HLA-B gene and the susceptibility to severe hypersensitivity
reaction to abacavir treatment in HIV-positive patients. This pharmacogenetic
test is now routinely performed to help infectivologists in selecting the most
appropriate treatment combination for HIV-positive patients.
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