Geneticist: Journey from lab discoveries to healthcare services a long one

Sander Pajusalu
Sander Pajusalu Source: ERR

A €30 million project supported by the European Commission and the Estonian state is set to be used to establish a center for personalized medicine research and development at the University of Tartu. According to Sander Pajusalu, head of the University of Tartu's Genetics and Personalized Medicine Clinic, it is too early to say when treatment plans based on personal genetic data may become the norm.

Pajusalu said, that the data currently stored in the Estonian Genome Center covers around a fifth of Estonia's adult population. However, gathering the largest possible data set is not a priority in the development of personalized, or precision, medicine. "The question is about what to do with this genetic data. How can we make the genetic datasets valuable and how can we provide health services to people that would be of real use?" he said on ETV show "Terevisioon".

The newly received funding is set to be used for the development of a center for personalized medicine research and development.

The center will bring together researchers and practitioners from several different disciplines to take the next steps towards the provision of personalized medical services. "In some ways, a scientific breakthrough is just the beginning of the journey," Pajusalu said.

It is one thing is to discover a link between certain genetic variants and the risk of an illness or disease, but quite another to translate this knowledge into the provision of an effective health service, he said.

"It involves a huge number of different processes. How do you make the discovery in the labs in the first place, so that everything is validated, certified and meets (the required) regulations? How do you ensure that people are given proper consultations? How do you make follow-up plans?" said Pajusalu.

In other words, people should not be left to cope with complex information about genetics alone, but should instead be given clear instructions about what that information means and how to proceed. "Once these kinds of services have been developed, they can be applied for everyday medicine," he added.

Although personalized medicine is already being used for the treatment of some cancers, the general focus in Estonia is still on prevention, said to Pajusalu. He added, that it is still too early to tell whether people in Estonia will be able to receive personalized treatment plans based on genetic data from their family doctor within the next five or even ten years.

"In a sense, the research to support this (approach) already exists. However, [...] to establish a proven healthcare model and service will take time," Pajusalu said.

This year, for instance, the first trials could begin of a precision based project for the treatment of breast cancer in Estonia.

However, Pajusalu conceded that sometimes people are not as aware as they could be about the important role played by genetics. "As humans, we are certainly more alike than we are different. A lot of (health) risks come from being human," he said, adding that the extent to which these risks vary in different situations is debatable.

"However, for certain diseases, genetics have a greater effect, and that's where we're also very much hoping to (increase) the potential for prevention," he explained.

According to Pajusalu, the work of Estonian geneticists is unique because it is based on data collected from throughout the whole country. "In some centers around the world, maybe there are these bigger success stories, but often they are confined to a single hospital. In Estonia, we are trying to do things more comprehensively," he said.


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Editor: Michael Cole

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