PRS tests provide a statistical prediction of an individual's increased clinical risk for a specific condition. Photo: Gerd Altmann, Pixabay

Guidance on polygenic risk scores

The Estonian provider of PRS tests Antegenes supports the recent guidance from the American College of Medical Genetics and Genomics.

Polygenic risk scores (PRS) have recently been the subject of statements by the American College of Medical Genetics and Genomics (ACMG). These scores are used in the clinical assessment of an individual’s genetic risk for certain diseases. In simple terms, PRS tests provide a statistical prediction of an individual’s increased clinical risk for a specific condition, such as cancer.

Antegenes, an Estonian provider of PRS tests, welcomes ACMG’s initiative and considers it a crucial step towards establishing best practices and guidelines for the widespread use of PRS technology.

Dr Peeter Padrik, CEO of Antegenes, explains: “The considerations by ACMG align with our guiding principles at Antegenes for the development and use of our polygenic risk score tests. Our clinical grade genetic tests are in use in several European countries, and we have already applied these principles in their development and in providing cancer prevention services.”

Understanding polygenic risk scores

ACMG’s statements emphasize several important points related to PRS testing. First, it is crucial to understand that PRS test results do not provide a definitive diagnosis of a disease, such as cancer. Instead, they offer a statistical prediction of an increased clinical risk. Antegenes ensures clarity on this matter by providing explicit information in their test materials.

Furthermore, a low PRS does not exclude the possibility of significant risk for the disease in question. PRS represents only one aspect of an individual’s hereditary risk, and there are other factors that can influence the development of tumors. Antegenes emphasizes the importance of considering PRS results within the context of other relevant clinical data.

Considerations for effective implementation

Another factor to consider is that PRS predictions may vary based on the population used as reference. Ethnic background plays a role in this variation. Antegenes addresses this by analyzing PRS performance using data from different ethnic groups and making necessary adjustments to the test results. They always include information about an individual’s ethnic group in their genetic testing process.

ACMG also highlights the importance of complementing PRS testing with monogenic testing in certain clinical scenarios where the underlying genetic cause is known or suspected. Antegenes fully supports this approach and recommends considering both PRS testing and monogenic pathogenic variant testing, aligning with established clinical guidelines.

Promoting evidence-based medical management

Antegenes agrees with ACMG’s stance that patients and healthcare providers should have informed discussions about the indications for PRS testing and how the results will be used in guiding medical management. They emphasize the importance of evidence-based PRS-based medical management and have developed clinical recommendations based on PRS risk levels and existing professional guidelines.

In summary, Antegenes fully supports ACMG’s statements and has taken into account the described limitations of PRS testing. They have implemented solutions, provided relevant information, and developed clinical recommendations based on available evidence for the prevention and screening of specific tumor types.


Antegenes is a member of Oslo Cancer Cluster. The Antenor implementational research project, focused on preventing breast cancer based on genetic risks, is currently underway in collaboration with Norwegian scientific and clinical partners and is scheduled to conclude by the end of 2023. The project partners are Oslo University Hospital, the University of Oslo, Vestre Viken Hospital Trust, Oslo Cancer Cluster and Antegenes.

From left to right: Iselin Holmedal Marstrander (EHiN), Ellen Rønning-Arnesen (Ministry of Health and Care Services), Ketil Widerberg (Oslo Cancer Cluster), Bettina Lundgren (Danish National Genome Center), Gun Peggy Strømstad Knudsen (Norwegian Institute of Public Health), Nard Schreurs (EHiN).

Suggested a Nordic Health Data Space

How can the Nordics use health data to accelerate the development of cancer precision medicine?

”We have a foundation for health data that is among the best in the world.”

State Secretary Ellen Rønning-Arnesen from the Ministry of Health and Care Services presented the government’s work with health data at an EHiN meeting earlier this month.

“Our main task now is to make Norwegian health data even more available for research. We have a good starting point for this with good systems and high trust from the population that the data will be used safely and securely,” commented Rønning-Arnesen.

More targeted treatments

Ketil Widerberg, general manager of Oslo Cancer Cluster, presented an idea to the government’s vision, inspired by the EU initiative European Health Data Space:

“The Nordics can become a test bed for precision medicine, we can create a Nordic Health Data Space and do regulatory innovation. The old way of documenting the effect of treatments doesn’t work, especially in cancer. The patient groups are so small that we can’t use control arms the same way as before.”

Widerberg mentioned the national clinical study IMPRESS-Norway as an example. By using advanced molecular diagnostics, they have identified targeted treatments for cancer patients with no other options left.

“Health data should be used as documentation for faster approval of new medicines. Norway and the Nordics can lead the way here in regulatory innovation. Let’s create a Nordic Health Data Space to solve this challenge now!” Widerberg suggested.

Potential of genome data

Denmark is already using health data for clinical research and patient treatment. The Danish National Genome Center work with the implementation of whole genome sequencing in patient treatment, collecting and storing Danish genome data, making genome data accessible for clinicians, researchers and patients, and promoting the development of personalised medicine in Denmark.

“Genetic data are important and should be used when sensible, especially for research, development of new medicine and patient treatment. We are still operating too much from a one-size-fits-all. When it comes to cancer, the Nordic countries cooperate well together,” commented Bettina Lundgren, director at Danish National Genome Center.

The Norwegian Institute of Public Health also has excellent experience with making use of health data.

“Through the pandemic, we demonstrated that we could get quick access to data. We got data in almost real-time and at quite a low cost. We also need to lift the Norwegian population-based cohorts as a valuable source. We can use them to analyse the side effects of vaccines and the genetic risk of developing disease. We can hope for a future personalized vaccine strategy,” said Gun Peggy Strømstad Knudsen, deputy director general of the Norwegian Institute of Public Health.

Want to learn more?

EHiN (E-Health in Norway) has been an annual conference for almost a decade and arranges meetings throughout the year. Here are some of the upcoming events:

  • 31 May – Helsesikkerhetsdagen
  • 1-2 June – Plattformdagene
  • 15-17 August – Arendalsuka
  • 7-8 November – EHiN 2023
Margrethe Biong (the Norwegian Research Council), Astrid Bjerke (the Norwegian Cancer Society), Marine Jeanmougin (Oslo Cancer Cluster) and Ketil Widerberg (Oslo Cancer Cluster) represented Norway at the kick-off-meeting in Lisboa.

Europe united against cancer 

Europe has its own moonshot against cancer!

The European Union has awarded 6 million euros to a consortium of 57 organizations spanning across 28 countries. They have joined forces to fight cancer at all levels of society, by supporting cancer research and innovation, policy development and citizen engagement. 

“The ambitious approach taken by the European Commission to reduce the cancer burden for patients requires a coordinated response from relevant actors across Europe,” commented Marine Jeanmougin, responsible for EU affairs and digitalisation at Oslo Cancer Cluster.

The project is called ECHoS and is coordinated by the Portugese Agência de Investigação Clínica e Inovação Biomédica (AICIB). Oslo Cancer Cluster together with partners of Cancer Mission Hub Norway have contributed from the Norwegian side. 

“The strong collaboration between Oslo Cancer Cluster, the Research Council, the Cancer Society and their partners, has brought Norway to take a central role in ECHoS. The Cancer Mission Hub Norway has the potential to shape best practices, in a joint effort with our European collaborators,” Jeanmougin commented. 

Read the press release (in English)

Read the press release (in Norwegian)



Photo: Sofia Linden / Oslo Cancer Cluster

Åslaug Helland receives cancer award

Norwegian cancer researcher dedicated to clinical trials receives prestigious prize.

Professor Åslaug Helland is the recipient of the King Olav Vs Cancer Research Award 2023. Helland is an oncologist and Research Director at Oslo University Hospital (Comprehensive Cancer Centre).

“This is a great honour, and I am very happy about this recognition of the research environment involved. I have been very fortunate working with lots of very talented people over the years!” Helland commented.

The cancer prize is awarded annually by the Norwegian Cancer Society, and it is the highest honour for Norwegian cancer researchers.

The international experts that evaluated the nominated for the prize, emphasized how Helland through her clinical studies has contributed to developing a more personalised treatment for cancer patients.

Innovation for patients

When asked what the biggest challenge right now for the development of cancer diagnostics and treatments in Norway is, Helland responded:

“The developments in cancer diagnostics and treatment over the past few years have been very good, and we need to continue securing the competence and development in all health regions. It is in many ways a new field, and building competence takes time.

“In addition, we need to find ways to offer new and innovative treatments to our patients, and to encourage more clinical trials in Norwegian hospitals. This is an obvious goal from both the public health care system and from the pharmaceutical and diagnostic industry, and by working together we achieve more!”

Leading the way for change

Helland is the Principal Investigator for IMPRESS-Norway, a national clinical study in cancer precision medicine, and Director of MATRIX, the Norwegian Centre for Clinical Cancer Research, as well as Leader for Nortrials. Helland’s key roles in these trailblazing initiatives show her commitment to continually improving cancer care.

“In the future, we have more options in diagnostics and treatment. The field is developing very rapidly, and the public healthcare system will develop to offer new and innovative treatments and diagnostics in a sustainable way. We also have improved decision support systems and improved follow-up programs for our patients,” said Helland.

Helland received the prize in the University Aula from His Majesty King Harald of Norway and in the presence of family, friends, colleagues and the general cancer research community.