"Whole genome sequencing marks a key moment in the development of genomics and medicine, with the potential to significantly improve the healthcare system through more precise diagnostics and a personalised approach to treatment," Primorac said at a press conference.
This achievement used the most advanced technologies and was realised through collaboration between scientists from the St. Catherine Specialty Hospital and their American colleagues from Dartmouth University, and it was entirely completed in Croatia.
Primorac described the genome as a system of two billion letters, with each letter, or any potential mutation, being analysed using artificial intelligence. In the final genome report, we can know whether a newborn or a healthy adult will develop cardiovascular diseases, sudden cardiac death, or cancer, Primorac said.
He noted that whole genome sequencing has begun to be applied in a private hospital in Croatia and that this type of analysis, which cost more than a billion dollars a few years ago, is now available for around $1,000.
He added that this sounds unreal. "We waited for artificial intelligence to reach the level it is at today so that we could have the technology that allows us to obtain a whole genome analysis and interpretation within two to three days," Primorac said.
"We are also going a step further by introducing liquid biopsies, where, during therapy monitoring, we can obtain a complete tumour profile from just a few cells, and we are already doing that in our hospital," Primorac added.
He also said that the presentation of the project has nothing to do with his presidential campaign. "This is something I have been working on for 30 years, and as for the campaign, it's completely separate from science."
Primorac expressed hope that whole genome sequencing will also be available in public hospitals, as it would greatly contribute to prevention, ultimately leading to cost savings.
The project also involved the International Society for Applied Biological Sciences (ISABS), the Croatian Society for Human Genetics, and the Croatian Society for Personalised Medicine.