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

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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.

About

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.

The post Guidance on polygenic risk scores first appeared on Oslo Cancer Cluster.

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

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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

The post Suggested a Nordic Health Data Space first appeared on Oslo Cancer Cluster.

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 

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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)

 

Funded by the European Union under the Horizon Europe Framework Programme. Grant Agreement Nº: 101104587. Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union or the European Health and Digital Executive Agency (HaDEA). Neither the European Union nor the granting authority can be held responsible for them. 

The post Europe united against cancer  first appeared on Oslo Cancer Cluster.

Espen Solberg (NIFU), Camilla Stoltenberg (FHI), Leif Rune Skymoen (LMI) and Ole Alexander Opdalshei (Norwegian Cancer Society) discuss how to perform the Cancer Mission in Norway. Photo: Sofia Linden / Oslo Cancer Cluster

Missions: a new way of doing politics

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Three people in a discussion on a stage, sitting, one of which is Camilla Stoltenberg, who is engaged with her arm in a gesture.

How can Norway succeed with the EU’s Mission on Cancer?

“This challenges the Norwegian way of doing politics,” commented Espen Solberg, Head of Research at NIFU – Nordic institute for studies in Innovation, Research and Education, at the recent breakfast meeting Fremtidens kreftbehandling about the Mission on Cancer.

“Politicians need to be bold, set goals and create a plan. They need to ask: where are we in three, four or five years? We don’t do this very much in politics. Politicians usually work in different fields. A mission requires all fields to work together,” continued Solberg.

The state as entrepreneur

The European Commission has set the ambitious goal of improving the lives of 3 million Europeans affected by cancer by 2023. This is the Mission on Cancer, one of five missions the European Commission has identified. Missions are a new way to bring concrete solutions to some of the greatest challenges of our time.

“This is a methodology that models a way to do public innovation, to solve problems that do not have a solution, and where you need to mobilise knowledge from different fields. All successful missions are characterised by concrete challenges to solve, for example technological, in a specific area. Cancer can obviously be one such mission,” commented Lars Peder Nordbakken, economist, Civita.

Both Nordbakken and Solberg agreed that the state needs to be the main driver and act as an active entrepreneur for a mission to be successful. All key players need to be involved and it is important to find the best competency in the area.

Should Norway find its niche?

Camilla Stoltenberg has led the Norwegian Institute of Public Health through the corona pandemic, a kind of mission in its own right.

“In my opinion, cancer treatment is too narrow. I think that if we are to succeed in Norway, prevention and promoting health are the most important things to do. We have better preconditions to assert ourselves internationally in these two areas and I believe we can do a fantastic job if we focus on them,” commented Stoltenberg.

Leif Rune Skymoen, CEO of the Norwegian Pharmaceutical Association, emphasised the value of focussing on cancer treatments and diagnostics.

“The industry will be an important contributor of competency, investments and tools in diagnostics and treatments to fight cancer. Cancer is a field where Norway has very good research environment and strong companies developing future cancer treatments and diagnostics. The Cancer Mission presents opportunities such as funding and new partnerships, which will be positive also for Norway,” commented Skymoen.

Where is the political vision?

With a new national cancer strategy underway, the question on everyone’s minds is: are the politicians indeed bold, with set goals and a clear plan? The politicians themselves think there is still a way to go.

“We are not good enough at connecting to these opportunities. The most important thing we do is to take advantage of what is happening on an EU level, both for research and industry. This challenges the way we do politics,” said Truls Vasvik, Arbeiderpartiet (Norwegian Labour Party).

“We need to discuss how Norway in the best way can get a strong connection to EU’s Mission on Cancer. The point of missions is to connect to the process, not just sit and wait for the results. It is not just about funding schemes, but a comprehensive investment. We need a more thorough discussion about how we as a society connect to this,” said Alfred Bjørlo, Venstre (Norwegian Liberal Party).

A national hub

Norway is already involved in the EU Mission on Cancer through different funding programmes, for example Horizon Europe and EU4Health, as well as through a national mission hub.

“The Missions methodology breaks down the sectorial approach and forces us to collaborate across health, research, education, and industry. It also contributes to faster implementation of research. It can also create public engagement and enthusiasm among the public,” said Ole Alexander Opdalshei, deputy secretary general, Norwegian Cancer Society.

“Together with Oslo Cancer Cluster, the Norwegian Research Council and other key players, we have put together a national hub so the developments on a European level also will benefit Norwegian cancer patients. We connect different milieus and create new constellations for collaboration,” continued Opdalshei.

Read more about the Norwegian Cancer Mission Hub

 

Fremtidens kreftbehandling is a political meeting series organised by Oslo Cancer Cluster, LMI – Legemiddelindustrien and Kreftforeningen, with support from AstraZeneca Norway, MSD Norway and Janssen Norway. Please save the date for our next meeting in Arendal on Tuesday, 15 August 2023, 08:00-09:00, at Clarion Hotel Tyholmen.

The post Missions: a new way of doing politics first appeared on Oslo Cancer Cluster.