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Results from breast cancer screening pilot

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A clinical pilot for personalised risk-based breast cancer screening has been conducted as part of the AnteNOR project. Here are some of the results.

The pilot study that was part of the AnteNOR research project investigated the use of a genetic test assessing the participants’ polygenic risk score (PRS) for breast cancer in tailoring a more personalised mammographic screening. Further, women’s experiences with the test were explored.

“In total, 80 women aged 40-50 years were included in the pilot study. They were recruited among women referred for clinical mammography at the breast center in Vestre Viken in Norway”, said Tone Hovda, senior radiologist at Vestre Viken Hospital Trust, where the study was conducted.

AnteNOR has investigated how it will be possible to implement a more personalised screening programme for breast cancer in Norway, based on the individual’s genetic risk for disease.

Women with a prior diagnosis of breast cancer or premalignant breast disease were excluded, as were women who had already been through genetic counselling and testing due to family cancer history.

The participants submitted saliva samples that were sent to the project partner Antegenes in Estonia for DNA sequencing and calculation of the polygenic risk score using the AnteBC test developed by Antegenes.

Screening recommendations

The participants were then recommended for future mammographic screening based on the results of the PRS test. The participant’s 10-year breast cancer risk was assessed and compared to the 10-year breast cancer risk for average women of the same age.

Women with a 10-year risk lower to or equal to average were recommended to participate in the national mammography screening program, BreastScreen Norway, inviting women aged 50-69 to biennial mammography. Women with a relative risk higher than average were recommended to start biennial mammographic screening at an earlier age than 50 years, based on what age the risk of an average 50-year-old woman was reached.

Women with a relative risk double as large as the average risk were recommended annual mammography from the age they reached a double risk compared to an average 50-year-old woman.

Half had a higher risk

In total, 51% had a relative risk for breast cancer based on the PRS-test that was higher than the average population of the same age. These participants were recommended to start mammography screening at an earlier age than 50. 12% had a relative risk double as large as the average risk.

27% were referred to the Oslo University Hospital for more extended genetic testing due to family cancer history.

Family cancer history

At inclusion, the participants answered a questionnaire addressing family cancer history. Medical geneticists at Oslo University Hospital evaluated this information, and participants fulfilling national criteria based on family cancer history were referred for further genetic counselling and testing for hereditary cancer, independent of the results of the PRS test.

What the women experienced

All participants were invited to answer a follow-up questionnaire 6-9 months after the PRS testing, exploring the women’s experiences.

“The vast majority felt it reassuring to get information about their future risk for breast cancer and agreed that they would probably follow the recommendations regarding mammography screening given based on the tests”, said Tone Hovda.

The participants were given written information about the test results and recommendations, and the majority agreed that this communication was satisfactory.

The pilot study provided important information for future studies exploring personalised risk-based breast cancer screening using the polygenic risk score as a measure for stratification.

“We plan to publish the results with more detailed analyses, also including breast density, as soon as possible in a peer-reviewed journal.

“Polygenic risk score is promising as part of a more risk-based personalised screening program for breast cancer. Other risk factors as breast density and family history should probably also be included. We definitely need larger prospective screening studies to gain further knowledge to move towards more personalised breast cancer screening rather than the current “one-size-fits-all” screening,” said Hovda.

Read more in this previous article about the clinical pilot.

Sign up for the upcoming seminar Results from the AnteNOR project: Norway’s way towards precision prevention

About AnteNOR

The project partners of AnteNOR are Oslo University Hospital, the University of Oslo, Vestre Viken Hospital Trust, Oslo Cancer Cluster and Antegenes. The project has received funding from the Norway Grants Green ICT programme and is finalized this year.

The clinical pilot has received approval from the regional ethics committee and is registered in the database clinicaltrial.gov.

AnteNOR partner logos

5 people sitting on stools in fromt of a white screen, being part of apanel for discussion.Wenche Gerhardsen

Personalising breast cancer screening in Norway

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Are polygenic risk scores the key to personalising cancer prevention in Norway?

Imagine that your saliva can reveal your personal risk for developing certain diseases. Think about the possibilities of detecting cancer at an early stage, preventing serious disease and saving lives. This is what polygenic risk score (PRS) tests are all about.

The AnteNOR project has investigated how such a test for breast cancer can be implemented in the Norwegian healthcare system. In a recent seminar at Oslo Cancer Cluster Innovation Park, researchers and experts met to present the results and discuss the way forward.

Watch the seminar here:

 

Analysing Norwegian data

Eivind Hovig, Professor at the Centre for Bioinformatics at the University of Oslo, and group leader at Institute for Cancer Research, Oslo University Hospital, has investigated the performance of breast cancer polygenic risk score in the Norwegian population.

Eivind Hovig, Professor at the Centre for Bioinformatics at the University of Oslo, and group leader at Institute for Cancer Research, Oslo University Hospital. Photo: Sofia Linden / Oslo Cancer Cluster.

Denise O’Mahony, researcher at the Department of Medical Genetics, Institute of Medical Genetics at University of Oslo, supplemented Hovig’s presentation. Her research group has among other things analysed the distribution of polygenic risk scores in Norwegian data compared to Estonian data.

“By the age of 49 we see a total of 182 women that have a higher risk than the median absolute risk at 50, which is the age that women enter screening, therefore indicating the benefit of incorporating the PRS in clinical practice,” commented O’Mahony.

Denise O’Mahony, researcher at the Department of Medical Genetics, Institute of Medical Genetics at University of Oslo. Photo: Wenche Gerhardsen / Oslo Cancer Cluster.

 

Testing in the clinic

A clinical pilot study at Vestre Viken breast centre has evaluated the impact of implementing population-based genetic testing strategy for breast cancer precision prevention. There were 80 study participants aged 40-50 who took the saliva-based PRS test at the breast centre. Some of these women were ultimately recommended earlier screening or more intensive screening.

“Half of them were recommended to participate in standard screening. Almost half of them were recommended to start screening at an earlier age than 50. One was recommended to start annual mammography screening immediately,” said Tone Hovda, senior radiologist at Vestre Viken.

Tone Hovda, senior radiologist at Vestre Viken. Photo: Sofia Linden / Oslo Cancer Cluster.

 

Is this cost-effective?

As with any innovation, the tests come at a price. Kari Kollstad, health economist at Oecona AS, has developed a cost-effectiveness analysis of a polygenic risk-tailored breast cancer screening program in Norway.

“The preliminary results show that risk-stratified screening is more costly than current mammography screening, mainly driven by: costs associated with implementing the test and consultations, as well as screening costs. Risk-stratified screening also resulted in an increase in life years and quality-adjusted life years, and a redistribution of cancer cases compared to current mammography screening,” said Kollstad.

This means that while the tests come with a cost, risk stratified screening means that breast cancer can be detected at an earlier stage and that patients live longer.

Kari Kollstad, health economist at Oecona AS. Photo: Sofia Linden / Oslo Cancer Cluster

 

Towards individual-based screening

The presentation was followed by a panel discussion about how to implement PRS tests in clinical practice.

“As an oncologist with 33 years of experience, I have encountered numerous cases of advanced breast cancer in women of various ages. When analyzing their risks and individual stories, I realized that we could prevent most of these unfortunate situations. Breast cancer risks vary significantly among women, but our screening approaches are the same for all. It is crucial that we enhance the current real-world practices for breast cancer prevention and screening, especially considering the availability of innovative solutions,” commented Dr. Peeter Padrik, CEO and Founder of Antegenes.

The company Antegenes has developed novel polygenic risk score-based genetic tests to estimate the risk of common cancers.

Peeter Padrik, CEO and founder of Antegenes. Photo: Sofia Linden / Oslo Cancer Cluster

“I believe precision cancer prevention will be the right way for the future. We need to see what we can do to find more women with breast cancer that need to be treated,” commented Ole Alexander Opdalshei, deputy secretary general, the Norwegian Cancer Society.

“We have been doing mammography screening for 30 years now and using the same procedures and equipment, so it is definitely time for change. We need to go more personalised. We need more efficient tools and we need to consider if it is time to extend the age range targeted in the program. I think the Antegenes test could contribute to making BreastScreen Norway more personalized and better for women: if we could start inviting women 48 years old, test all women and plan a personalised screening for the women. It would be expensive, but perhaps cost-effective in the long run,” commented Solveig Hofvind, Head of the Mammography Programme at The Cancer Registry of Norway.

 

Project partners: Antegenes, Oslo Cancer Cluster, Oslo University Hospital, University of Oslo, Vestre Viken.

This project is supported by the Norway Green ICT Programme.

 

New research on genetic risk and breast cancer

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How a simple saliva test can reveal the risk of breast cancer in the Norwegian population.

A study by the University of Oslo, Oslo University Hospital and OÜ Antegenes looking into Polygenic Risk Scores (PRS) and breast cancer in Norway was recently published in the journal MDPI Cancer. PRS technology is a type of genetic test that can reveal an individual’s risk of developing cancer.

“The study was initiated to assess the possibility of using a combination of genetic markers for a given woman here in Norway to predict the risk of developing breast cancer over her life,” said Eivind Hovig, Professor at the Department of Bioinformatics at the University of Oslo, and one of the co-authors to the article.

Early detection

Every year, there are close to 4 200 new breast cancer cases and almost 600 deaths from breast cancer in Norway, according to reports from the Norwegian Cancer Registry. Early detection is crucial for survival, but almost 40 per cent of breast cancer cases are not diagnosed at an early stage.

“The results indeed indicate that it is entirely feasible to apply such a predictor meaningfully in a Norwegian context,” said Hovig.

Personalised screening

Current breast cancer screening in Norway is implemented for women at age 50-69, but approximately 20 per cent of breast cancer cases are diagnosed in younger women. These tests can potentially be used to identify younger women with a higher risk and lead to a more personalised screening approach.

“As the application of such a predictor may have implications for management of patients with high risk scores, it may lead to different screening strategies and a better understanding of the risk profiles of these patients,” added Hovig.

The PRS test used in the study was developed by the Estonian company Antegenes. The study was conducted as a part of AnteNOR, a project that investigates how PRS can be implemented for prevention and early detection of breast cancer in Norway.

Polygenic risk scores: a European cancer priority 

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The EU is looking to polygenic risk scores to improve prevention and early detection of cancer

Polygenic risk scores (PRS) have become one of the focus areas for prevention and early detection of cancer in the European Union’s Mission on Cancer. 

“PRS tests can provide a measure of your personal risk of developing a specific disease due to your genes,” explained Krista Kruuv-Käo, project manager of AnteNOR, a project that investigates how PRS can be implemented for prevention and early detection of breast cancer in Norway. 

Europe’s Beating Cancer Plan outlines 10 flagship initiatives and number 7 focuses on how cancers develop: 

“Alongside the ‘Genomic for Public Health’ project, the European Initiative to Understand Cancer (UNCAN.eu), planned to be launched under the foreseen Mission on Cancer to increase the understanding of how cancers develop, will also help identify individuals at high risk from common cancers using the polygenic risk scores technique. This should facilitate personalised approaches to cancer prevention and care, allowing for actions to be taken to decrease risk or to detect cancer as early as possible.”

What about Norway?

There are about 4 200 new cases and almost 600 deaths due to breast cancer in Norway each year, according to reports from the Norwegian Cancer Registry.  

“Early detection of breast cancer can save lives, but approximately 40 per cent of breast cancer cases in Norway are not detected at an early stage. For breast cancer, 31 per cent of all diagnoses are due to genetic predisposition and many women develop cancer before they reach the screening age of 50,” Kruuv-Käo commented. 

There are already genetic tests in the Norwegian specialist healthcare service for monogenic pathogenic variants, such as BRCA1 and BRCA2, but not on a population-wide basis. PRS tests have not been implemented yet, although they are both cheaper and can identify more women with a moderate to high risk of developing breast cancer. 

Improving cancer screening

The results of the AnteNOR project were recently presented at a meeting organized by the Norwegian Cancer Mission Hub. 

“The project shows that PRS tests can be used for effective risk stratification for population-wide breast screening. By introducing genetic risk testing with PRS tests and monogenic testing, the women with moderate to high risk of developing breast cancer can be identified before the screening age of 50 years. With a personalised screening programme, some women may need to screen earlier and more often, while others can go to screenings less frequently in the future,” Kruuv-Käo explained. 

Estonia is already preparing for the introduction of a personalized breast cancer screening program, and the plan is to launch it this year. Will Norway follow?