Gene Bank looking for IT system

Photo: Sille Annuk

Estonia wants to become the first country in the world where the entire population’s genetic information is collected and analyzed and where predictions of health risks reach patients and doctors in real time.

The Gene Bank serves as one of the best health risks platforms but what it lacks is an application to combine the bank’s data with a person’s medical records, number of daily steps taken and heart rate from their smartwatch and what they buy at the supermarket to create an integral picture of health risks that might impact one’s chances for a healthy and enjoyable life.

Scientists cannot be everywhere

We have all the necessary preconditions for solutions telling people they need to change something right now to avoid, for example, a heart attack, considering their genes, eating habits, environment and lifestyle.

“This database and the knowledge it gives us could immediately be used in healthcare. The genetic component of this knowledge is the greatest innovation that does not exist elsewhere. This is the component that tells us of a person’s health risks from day one. We would not have to wait for the person’s cholesterol to skyrocket for their family physician to tell them they have a high risk of heart disease,” said Deputy Director of the University of Tartu Gene Bank Tõnu Esko.

We could anticipate those risks and benefit greatly – that was the core of Esko’s message at this week’s European EIT Health seminar.

A lot of Estonians have agreed to provide a gene sample. The center hopes to collect samples from 150,000 people this year. People are motivated by wanting to know what their genes have to say about them. They also want their doctor to make use of that information. Is the information reaching people and doctors today? The honest answer is that it’s not.

“That is the biggest problem. The person’s genetic profile has been studied and is available to scientists. We can say something about that person’s risk of heart disease and certain malignant tumors and the suitability of drugs. We have the knowledge and guidelines of how to use that information,” Esko said.

“What we lack are IT solutions that would take genetic profiles, scientific know-how and existing health information and put it all together in a single black box so to speak.”

What has been done in Estonia so far? A genetic feedback project has been launched that will make it possible to give 2,000 people some feedback over two years. It is not a lot, but things have started moving – and Estonia is among the first in the world in this regard. Gene donors receive feedback from specially trained doctors, gene consultants, medical geneticists but not yet family doctors. “We do not see ourselves providing this feedback in the future; our work is scientific advancement and innovation. It would also be impossible in terms of the time it would take,” Esko explained.

Society and citizens want information. So does the state as risk prevention would help save billions in healthcare spending and allow more effective use to be made of medical personnel.

Esko feels the state should do two things: draft laws to enable exchange of information and create a technical IT solution for the private sector for use of gene data. From there, tech sector entrepreneurs who know a little about genetics could take over and make sure the info reaches doctors and patients.

What the Gene Bank has

True, it is undoubtedly more difficult to develop IT technology in the field of medicine than it is regarding ridesharing for example. The entire field is much more regulated. Doctors need to be involved in the work of development teams.

“Man is a very complicated machine. It is very difficult to create an analytical feedback model there,” Esko admitted.

Estonia wants to be the first country where the genetic information of the people has been analyzed and made available for use together with additional information in real time. For people’s disease prevention and treatment to be based on it.

Innovation has already happened and there is demand – what is missing is the third leg of the stool. “The underlying platform is undoubtedly the best in the world,” Esko said.

The way the Gene Bank’s health risks analysis works is by taking the gene data of 50,000 people and dividing it into two groups: for example, diabetics and healthy people. From there, it is seen which gene variations the diabetics exhibit more of.

“That is how we learn whether a certain gene variant is, for example, 20 percent more common among diabetics. Of course, the number of gene mutations varies from person to person which is another factor in risk of illness,” said Lili Milani, leading research fellow and head of the personal medicine program at the Gene Bank.

Milani said that genes only create the premise for illness and that lifestyle choices and timely preventative treatment can save people from becoming ill. That is why it is important for information on risks and suitable preventative measures to reach people quickly. I asked Milani which genetic predispositions plague Estonians the most. Her answer was less than surprising.

“The biggest and genetically most complicated risk is cancer – the rate of mutations is 1 to 200. However, the biggest overall killer is still heart and cardiovascular disease. One cause of premature deaths is genetically high blood cholesterol level mutations concerning which also occur in one person out of 200,” Milani said.

Blood cholesterol level is among things than can be regulated through food, lifestyle and drugs to minimize damage to health.

State working on it

Director of the social ministry’s Health and Welfare Information Systems’ Center (TEHIK) Katrin Reinhold said that the state has taken concrete steps in this area. TEHIK and the State Information System’s Authority (RIA) are working on a prototype solution based on existing health data to reveal information in the healthcare information system to third parties with the patient’s consent.

“The solution creates premise for a revolution in digital health services – opportunity for new health services. The project’s direct target group and beneficiaries are patients and healthcare service providers are indirectly the entire healthcare system and state as a whole,” Reinhold said.

She added that the agencies will develop a quality control system for service providers and an audit and supervision process for services. Several new services and new software might be classified as medical devices and the interests of the consumer will have to be protected regarding them.

The state is also funding test projects for prevention of breast cancer and cardiovascular diseases. The social ministry, health insurance fund and TEHIK have signed an agreement for a decision-making support project. This would give doctors access to health risks based on gene data.