Antegenes: risk score based genetic tests are essential for everyone

Oncologist and founder of Antegenes Dr Peeter Padrik states that the best cancer cases are those that can be prevented or detected as early as possible. The company has developed and put into practice innovative genetic tests based on polygenic risk score technology, which are the basis for personalised cancer prevention.

“During my career as an oncologist, I have seen and treated many cancer patients alongside my colleagues,” says Dr Padrik. “We have implemented many new effective cancer therapies and improved the quality of cancer care. However, I have always known that the best cancer cases are those we could avoid. Or if it is impossible to prevent, we could detect as early as possible, in order to implement the most effective therapy.”

Dr Padrik has previously been actively involved in the clinical application of genetic information of cancers in both the treatment and prevention of tumours – what is known as precision medicine. “I was one of the founding members of the Estonian Genome Center,” he says, “I participated in a preliminary study on personalized medicine organised by the Ministry of Social Affairs and have led several clinical projects in the field of personalized medicine.”

Since cancer is a genetic disease, advances in basic research have opened up new opportunities for the use of genetic information in the prevention and early detection of cancer. According to Dr Padrik, considering those developments, we must use genetic information in cancer prevention as efficiently as possible. “One of these developments is the technology of polygenic risk scores, which is used to assess risks for certain diseases. Polygenic risk score (PRS) is a calculation that characterises a person’s genetic predisposition to a particular disease. This way, it is possible to identify people at increased risk of cancer so that they can get timely examinations and personal follow-up plans regardless of their age. In addition, we understood that according to the regulations of the European Union, genetic tests must be in vitro medical devices and they must have an official manufacturer with producer liability,” Dr Padrik describes the birth of the company.

Antegenes aims to introduce genetic tests based on polygenic risk score technology into healthcare in accordance with all requirements and regulations. “We are currently one of the leaders in the world. In the future, the genetic prevention of risks for most common diseases should be evaluated in all people – but we have these opportunities today,” Dr Padrik points out.

Antegenes is also an official spin-off of the University of Tartu – a research-intensive company that grew out of the university.

Antegenes tests are for everyone

According to Dr Padrik, Antegenes genetic tests are meant for all adults who want to specify their level of cancer risks and use it to knowingly manage their health behaviour. “We recently introduced our tests to Prof Gareth Evans from the University of Manchester, one of the world’s best-known specialists in cancer genetics and polygenic risk scores, who approved their implementation and made a good comparison: when the currently widely used tests showing changes in individual genes that affect cancer risks have an effect on perhaps 3% of the population, genetic tests based on polygenic risk scores are useful for everyone,” says Dr Padrik.

“In addition to people to ordering tests from our website, we also offer healthcare providers the opportunity to implement cancer precision prevention. Using our tests, it is possible to assess the genetic predisposition of common cancers in your patients (healthy people) and implement prevention programmes based on the results. I am convinced that it will save lives,” he adds.

Scientific progress has enabled Antegenes to develop tests and precision prevention programmes for four common cancers: breast, prostate and colorectal cancer and skin melanoma.

The first CE-marked in vitro medical device level polygenic risk score tests in Europe

“Our aim has been to implement innovative genetic information in the form of polygenic risk scores as a healthcare service, while providing very specific and science-based recommendations for clinical use. We have therefore registered our genetic tests as in vitro medical devices,” emphasises Dr Padrik.

He said that, so far, the field of genetic testing has been somewhat like the ‘wild west’, where genetic information is provided relatively uncontrollably. “The European Union has taken strong steps in this field and the use of genetic information will be regulated based on the in vitro diagnostic medical devices Regulation of the European Parliament and of the Council of the EU. The regulation is mandatory for all member countries and will be fully implemented in 2022, stating very clearly: “It should be made clear that all tests which provide information on the predisposition to a medical condition or a disease (e.g. genetic tests) are in vitro diagnostic medical devices.” Therefore, genetic risk assessments for diabetes or obesity, for example, may no longer be provided without the tests being registered as medical devices. To our knowledge, Antegenes tests are the first CE-marked in vitro medical device level tests for polygenic risk scores in Europe,” he explains.

Antegenes currently sees Europe as its target market as well as North and South America. “Estonia is certainly very important as well – it is our homeland and we want all Estonian people to have accurate cancer prevention in the future,” says Dr Padrik. “The current status of the timely detection of cancer in Estonia is not good, for example, more than half of breast cancer cases at the time of detection have spread from the primary site to other parts of the body. The situation is even worse with colorectal cancer. Cancer precision prevention would certainly improve this. We now see that for most patients who have ordered our three tests, at least one test gives clinically important personal recommendations compared with normal practice, meaning they should start participating in cancer screening earlier than is recommended by the government,” says Dr Padrik.

Antegenes is currently working on creating a network of partners in Europe, negotiations are also ongoing in Russia and Brazil. In addition, a genetic data interpretation service is being developed, which allows to analyse and use existing genetic data without performing a new genetic analysis. Furthermore, we are planning on developing new tests for other common complex diseases (cardiovascular disease and diabetes, other malignancies).

We have entered the era of using genetic information

The founder of Antegenes Dr Peeter Padrik has worked as a medical oncologist for many years. In addition to Antegenes, he continues to work part-time as a senior clinician and lecturer at Tartu University Hospital, but according to him, a doctor’s task is not only treatment, but prevention as well. “Since cancer is a genetic disease, I have always believed that genes are the keys to solving cancer problem in both treatment and prevention. These keys are increasingly available, but they also need to be implemented practically. As mentioned earlier, European Union regulations require genetic tests to be in vitro medical devices and they must have a manufacturer with a producer liability. This cannot be done in another way than in the field of entrepreneurship,” he states.

“The use of genetic information in disease prevention has up till now been clearly underused and, as mentioned earlier, it is possible to reduce the impact of major diseases with new conceptual models and options. At the same time, the use of genetic information in the treatment of tumours has become widespread and I believe that in the future, genetic testing for treatment options will be routinely applied to all patients,” he adds.

“The previous decades have introduced radiological examinations like ultrasound, computed tomography (CT), magnetic resonance imaging (MRI) and positron emission tomography (PET) for the diagnosis of tumours, and the developments in pathology have certainly been crucial as well. Now, however, we have reached the era where genetic information is used in a variety of ways in the diagnosis and treatment for the vast majority of cancer patients – in the form of both accurate prevention and accurate treatment,” says Dr Padrik.