Genetics plays a role in at least 5 of the 10 leading causes of death, with heart disease and cancer being the top two in 2020. There are about 18 million new cancer cases and 9.5 million related deaths every year. Certainly, this is a severe global problem, but hopefully not for long. With the growing recognition of genomics and the emergence of innovative health-tech startups like Antegenes, billions of people will be able to live healthier and longer.
“Cancer is a world major health problem, and the prognosis is that it will keep growing,” says medical doctor and researcher Peeter Padrik, who is also Antegenes’ CEO. Based on its current increase rate, there are predicted to be about 30 million new cases yearly by 2040. “What then can we do to solve this problem?” Peeter queries. “The most effective way out is precision prevention, and if it is impossible to prevent, in some cases, then early detection should be the next option,” he states.
Antegenes is an Estonian health-tech company founded in 2018 to make broad genetic information accessible for use in healthcare. The company developed novel polygenic risk score (PRS) tests to estimate the cancer risk level of individuals based on their genetic predispositions. Not only does Antegenes provide genetics-related cancer risk level assessment, but the company also provides comprehensive clinical recommendations on precision prevention and early detection.
Polygenic risk score tests to the rescue
While cancer screening programmes are currently available worldwide, they only consider a specific age range as a risk factor. In Europe and even other parts of the world, the recommended public breast cancer screening age is 50 and above, whereas there are almost as many cases among younger people. “The right approach would be personalised genetics risk-based testing. For example, in the case of breast cancer, one-third of the risks are from genetic predispositions,” Peeter says. In some other kinds of cancer, the risk is even much higher. For instance, with melanoma skin cancer, the risk associated with genetic predispositions is 58%.
“If people’s genetic risks are detected, we can give more precise and personalised recommendations, thereby reducing cancer morbidity and mortality. Well, these risks can be detected and analysed using the polygenic risk score (PRS) technologies which is the basis of Antegenes’ tests,” he expounds. A polygenic risk score is a genomic prediction method that analyses an individual’s heritable risk of developing a particular disease or medical condition. Offered in various packages, Antegenes’ innovative healthcare solution currently tests the genetic risk of breast cancer, prostate cancer, colorectal cancer, and melanoma. “In addition to cancers, we are currently developing polygenic risk score tests for cardiovascular diseases,” Peeter discloses.
Over 10,000 PRS tests carried out in 2021
“In Estonia, in 2021, we carried out over 10,000 polygenic risk score tests. In the case of breast cancer, we saw that many women have really high breast cancer risks and should do breast cancer screenings at earlier ages than what the current approach recommends. 42% of tested women were recommended to start screening earlier than age 50,” Peeter Padrik says.
With countless successful public-private sector collaborations, Estonia has proven time and again that partnerships between the state and the private sector do yield impactful results. Forging ahead on that path, earlier this year, the Estonian Health Insurance Fund, the state agency behind the national breast cancer screening programme, began accepting Antegenes’ polygenic risk score report as the starting point of recommendation to carry out public breast cancer screening at earlier ages than age 50, the standard screening age. “As far as we are aware, Estonia is the first country in the world where such an approach has been accepted,” he declares.
Yes, it works
Coming from a family with a genetic history of cancer, Kaia was only 19 when she was herself diagnosed with a breast tumour. It luckily turned out to be a benign tumour, and surgery was quickly carried out. Years later, with her now being a mum to two beautiful daughters, the tumour returned, and she had to be operated on again. With the help of Antegenes, she discovered that breast cancer wasn’t the only chronic disease she was highly susceptible to.
“I found out that my risk level of colon cancer is higher than the population average among women in my age group and that I should start colon cancer screenings ten years before the general age recommendation in Estonia. I also received specific recommendations for my health and wellbeing,” she said. Commenting on Antegenes’ solution, she said, “I am fascinated by what Antegenes does and the leap they have made enabling us to live a longer and healthier life.” Her husband and closest friends have also gotten tested based on her recommendation.
Collaboration with the Estonian Biobank
People who wish to use Antegenes’ services can retrieve their data from the Estonian Biobank and upload it to Antegenes’ system by themselves. After that, the genetic data is analysed, and reports are generated. Notably, Antegenes’ transparent and fair approach towards patients’ data collection, management, and usage won them the Finnish Innovation Fund Sitra’s Fair Health Data Challenge in 2021. According to Martin Meitern, Head of Communications at the University of Tartu’s Institute of Genomics, Antegenes and the Estonian Biobank are currently working on a more convenient data transference technological solution that remains fair and secure for all.
Commenting on the available genetic data size, Martin says the Estonian Biobank currently has a cohort size of over 200,000 individuals, which roughly reflects the age, sex and geographical distribution of the adult Estonian population. “And for those that do not already have their genetic data in the Estonian Biobank, we collect a new DNA sample, which unfortunately makes the process more costly, and then we generate the assessment reports,” Peeter Padrik explains.
The generated genetic risk reports are saved to the Estonian Health Information System (EHIS), where patients, their doctors, and medical institutions can easily access the medical data to implement precision prevention and early treatment recommendations. Meanwhile, patients can also access their data and manage their consents through Antegenes’ separate customer portal.
A step towards inclusion in medicine
The medical field has been heavily criticised for lack of diversity and inclusion and containing a monotonous ethnic lens, which limits the capabilities of medicine and leaves a sizable part of the society uncatered. Antegenes takes a step away from that by ensuring appropriate clinical adjustments for various ethnic backgrounds.
“The Estonian Biobank’s genetic data mostly includes people of European origin, but of course, there are many more ethnic groups and backgrounds. So we made additional adjustments to include other ethnic groups based on the UK Biobank’s data since it includes the data of not just people of European descent but also people of other ethnicities. This is very important to ensure that research developments and resulting technologies are inclusive and work for all ethnic groups. The adjustments are already included in current tests for the UK market,” Peeter divulges.
University of Tartu spin-off startup
Staying true to its recognition for high research output and intensive knowledge transfer, the University of Tartu has helped birth numerous innovations and startups, including Antegenes. “The Estonian Biobank Genome Program is a part of the University of Tartu. And in 2015, the Ministry of Social Affairs started a preliminary study on how to use the available genetic data on personalised medicine in health care. Based on this study, in 2017, the clinical pilot project to implement genetic-based personalised prevention for breast cancer and cardiovascular disease was started. I was the head of this consortium and also a principal investigator in the breast cancer research project,” Peeter recalls.
“During the project, we analysed regulations in Europe and understood that we had to branch out from being research project-based if we wanted to bring our genetics analysis solutions directly into healthcare. According to European regulations, all in vitro diagnostic (IVD) devices, of which our genetic tests are, must be CE-marked; meanwhile, universities do not have access to this. That led me to create Antegenes in order to bring into clinical use these polygenic risk score-based genetic tests. We had a two-year development and research phase, and in 2020, we brought CE-marked in vitro diagnostic polygenic risk tests into use in Europe,” he continues.
Still on the global cancer eradication agenda
It is unlikely that cancer will ever be fully eradicated. However, precision prevention and early detection will undoubtedly reduce this global menace’s morbidity and mortality rate. Towards their mission to make people live happy, healthier, and longer, Antegenes continues to partner with various organisations and programmes to scale up their research projects and take their innovative solutions worldwide.
“We have a collaborative project ongoing in Norway towards the public implementation of polygenic risk score-guided breast cancer precision prevention in the country. We have also started a separate project in collaboration with other medical institutions and national partners who aim to bring our approach on public breast cancer screening programs into use in Sweden, Portugal, then other European countries,” Peeter says. He also revealed that based on discussions held last month during the company’s visit to the United Arab Emirates for Expo 2020 Dubai, the participants acknowledged that collaboration among stakeholders from different countries is needed to ensure that the best genetics-based solutions are integrated into healthcare systems globally.
In 2021, Antegenes raised 500,000 euros from Everything Genetic Ltd, the leading provider of genetic tests in the United Kingdom. They also signed a strategic partnership agreement to introduce their PRS genetic tests to the United Kingdom’s healthcare system for cancer prevention and early detection.
Co-author and postgraduate student