Speaking to the Lusa News Agency, Ana Teresa Freitas, from the Portuguese startup HeartGenetics, a company that was born at the Instituto Superior Técnico (IST), explains that the test, unique in Europe, assesses 88 genetic variants in 32 genes through a saliva harvest.
"The pharmaceutical industry has a lot of therapeutic failure and spends millions on drugs in Europe that later go to Africa or Asia and fail in effectiveness", she said, stressing that both the effectiveness of the drug and possible adverse effects depend on the genetic characteristics of each person.
Ana Teresa Freitas, a professor at IST, explains that a drug is designed "to grab a certain protein" and that, "if that protein is altered, there is therapeutic failure", that is, the drug loses effectiveness.
The specialist points out that people can react differently to drugs, for several reasons: “if the metabolism is very fast, the body expels quickly and there is little effect [of the drug] and if it is slow it can have toxicity. Just as, for example, each person's genes can make you gain weight with a certain medication, or have skin reactions”.
“It is because of all of these reasons that some drugs are more effective in some people than in others”, she says.
“In a year and a half we built a laboratory panel in which, from a sample of saliva that the person can take at home and send by mail, as it does not degrade at room temperature, in the laboratory we were able to extract the DNA from the cells and go to a series of positions in the genome to seek, in an aggregate way, all the information we need for five therapeutic areas: cardiology, psychiatry, pain management, diabetes and oncology”, she explained.
In order to transform all this information into something that everyone could understand, software was developed that, with the information collected, produces a report that is easy to interpret for each person.
“It is like a colour code in which everyone knows, depending on the colour, whether or not they can take a certain medication. All of this is associated with a mobile app, so that the person always has the information with them and can share it with their doctor”, explained the researcher, adding that, in this way, it is possible to better manage the therapy.
According to the most recent data made available by Infarmed, in 2019, the national drug authority received more than 10,600 notifications of adverse drug reactions, the majority (62.7 percent) of which were considered serious.
According to Infarmed's report “Pharmacovigilance in Portugal 25+”, more than 197,000 people die each year in the European Union due to adverse drug reactions.