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A defective gene can take away a person’s ability to metabolise hundreds of medications!

For Lili Milani, in an ideal world, each person would have their own genetic report for personalized therapy. This image was created with the assistance of DALL·E.
For Lili Milani, in an ideal world, each person would have their own genetic report for personalized therapy. This image was created with the assistance of DALL·E.
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The metabolism of more than a quarter of the medications that are currently on the market is influenced by two genes. A study conducted by the Estonian Biobank confirms that everyday health care could benefit from considering genetic differences.

According to Lili Milani, professor of epi- and pharmacogenomics at the University of Tartu, response to therapy can roughly be divided into three groups: the first that responds well, the second that does not respond at all and the third that may experience side effects. “People respond differently to medications. This is partially influenced by the person’s genetics,” Milani said on the web show “Tähelepanu! Tegemist on teadusega” (Attention! This is Science).

Data from the Estonian Biobank, which contains the genetic information of over 210,000 participants, is a valuable source for identifying associations. “For example, we found that in two per cent of biobank participants almost an entire gene known to be very important for metabolising medications is missing,” said Milani. Looking into the data of participants with the defective gene in detail has helped researchers gain a better understanding of how different people process medications.

To achieve this, the research team conducted a clinical study in collaboration with Tartu University Hospital and the North Estonia Medical Center where subjects were given two medications and measured how their concentrations changed over time in blood drawn from the participants. “We found that people exhibit significant differences in their ability to metabolise and eliminate these two medications,” said Jana Lass, associate professor of clinical pharmacy at the University of Tartu. “This suggests that taking into account the patient’s genetic background would enable doctors to prescribe a personalized dosage of a drug tailored to each individual’s genetic profile.”

Photo: Arek Socha from Pixabay.

This could significantly increase the safety of treatment. If genetic data indicates that a person has a complete loss of function of a specific liver enzyme, it is likely they are unable to metabolise certain medications at all. “If they were to take this medication daily, it would accumulate, and they would eventually have such high concentrations of it in their blood that may lead to serious side effects,” Milani explains.

The professor noted that the two enzymes studied by the Biobank are important for metabolising medication. “One of them metabolises over 20% of the medications currently on the market, while the other metabolises 10%,” Milani says. “We can apply what we’ve learned about these two enzymes in our study to hundreds of other medications.”

For her, in an ideal world, each person would have their own genetic report for personalized therapy. Doctors could consider their genetic data when prescribing treatment right from the start. “Of course, this is wishful thinking since someone would have to pay for all of those genetic tests,” said Milani. But she remains hopeful that their current efforts towards making data collected in the biobank transferrable into the healthcare system will open up new cost-effective opportunities for personalized medicine in the coming years.”

This article was originally published on the Estonian Public Broadcasting online news portal. Editor: Jaan-Juhan Oidermaa


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