Pharmacogenetics of the Treatment of Neglected Diseases

Pharmacogenetics (PGx) aims to identify individuals more likely to suffer from adverse reactions or therapeutic failure in drug treatments. However, despite most of the evidence in this area being from European populations, some diseases have also been neglected, such as HIV infection, malaria, and tuberculosis. With this review, we aim to emphasize which pharmacogenetic tests are ready to be implemented in treating neglected diseases that have some evidence and call attention to what is missing for these three diseases.

A critical literature review on the PGx of HIV infection, malaria, and tuberculosis was performed.

There are three PGx guidelines for antiretroviral drugs used in HIV infection, one for malaria, and none for tuberculosis. Some evidence is already available, and some genes have already been identified, such as CYP2D6 for primaquine treatment and NAT2 for isoniazid. However, some barriers to the implementation are the lack of evidence due to the few studies on the diseases themselves and the admixture of the most affected populations, which must be considered, given the genetic differentiation of these populations.

PGx tests such as abacavir are already implemented in some places, and efavirenz/atazanavir is ready to implement if this medication is used. Other gene-drug associations were found but still do not present a clear recommendation. We call attention to the need to generate more evidence for testing treatments for other neglected diseases, such as malaria and tuberculosis, given their epidemiological importance and for the public health of less favored populations.