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Page 134 Cacabelos. J Transl Genet Genom 2021;5:133-5 https://dx.doi.org/10.20517/jtgg.2021.07

This special issue of the Journal of Translational Genetics and Genomics, entitled “Pharmacogenetics and
Pharmacogenomics of Human Diseases”, is a modest attempt to bring together some ideas from different
scientists worldwide with a multidisciplinary background and experience in the field of pharmacogenomics
and related disciplines.

Obeng et al. show key preparatory steps in establishing pharmacogenetic implementation programs,
[4]
including (1) selecting the medications, genes and the laboratory; (2) selecting the patients to test; and (3)
providing oversight for program implementation. They also emphasize on drug-gene pairs with strong FDA
recommendations, involving several drugs (clopidogrel, codeine, tramadol, pegloticase, rasburicase,
carbamazepine, oxcarbazepine, abacavir, azathioprine, mercaptopurine, and thioguanide).

[5]
Pandey et al. studied the problems with hydroxyurea treatment in sickle cell disease and how to overcome
or minimize myelosuppression and DDIs, postulating a mathematical model to challenge interpatient
variability, dose optimization, and non-adherence.

[6]
Gengivir et al. screened the pharmacogenomics of the immunosuppressive drug mycophenolic acid in
kidney transplantation. The Brazilian authors, under the supervision of Rosario Dominguez, analyzed
metabolic and transporter genes potentially associated with the pharmacokinetics and pharmacodynamics
of mycophenolic acid.

Amadori and Pasquale Striano’s group presented a case of postnatal epilepsy with a de novo missense
[7]
mutation in the KCNQ2 gene (c.1742G > A; Arg581Gln) at 20q13.3, treated with phenobarbital,
levetiracetam and phenytoin.

Seguí et al. showed evidence on the influence of pharmacogenomic factors on the effects of buprenorphine
[8]
in the treatment of opioid use disorder, paying special attention to genes encoding opioid receptors
(OPRM1, OPRD1, OPRK1) and metabolic genes involved in phase I-II enzyme reactions.

Finally, Lu et al. confronted the historical analysis of suicide with a brief review on this psychiatric
[9]
disorder which causes 2% of human mortality. Unfortunately, genomic and pharmacogenomic data on
suicidality are scarce and the pathogenesis of suicidal ideation is poorly understood.

Although, at the present time, the pharmacogenomics of most FDA-approved drugs is being systematically
[1]
analyzed , pharmacogenomics, as a clinical discipline, is still far away from being incorporated as a routine
in the clinical practice. Furthermore, the implementation of pharmacogenetic procedures is an urgent need
in drug development and in minimizing ADRs and DDIs . Many more studies are needed to understand
[3]
[10]
the interaction of commonly used drugs with the genome and characterize those genomic variants that are
decisive in the efficacy and safety of each drug, without excluding the influence of epigenetics on the
pharmacokinetics and pharmacodynamics of medicines.

DECLARATIONS
Authors’ contributions
The author contributed solely to the article.

Availability of data and materials
Not applicable.