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.

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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

The post Results from breast cancer screening pilot first appeared on Oslo Cancer Cluster.

Eivind Hovig, Professor at the Department of Bioinformatics at the University of Oslo, is one of the co-authors behind the research article published in MDPI Cancer.

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.

The post New research on genetic risk and breast cancer first appeared on Oslo Cancer Cluster.

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.

Photo: iStock

More personalised breast cancer screening

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A new clinical pilot offers personalised breast cancer screening to Norwegian women.

A new clinical pilot will investigate how women can receive more personalised breast cancer screening. Currently, women in the age group 50-69 are invited to mammogram screenings every second year in Norway, but 20 percent of breast cancer cases are diagnosed among younger women.

“This ‘one size fits all’ approach does not take into account the different breast cancer risks of individual women. A more personalised screening program might be beneficial for both women and society, both in terms of increased surveillance of persons at higher risk for breast cancer, as well as more targeted use of resources. My motivation as a breast radiologist is to work for a high-quality, evidence-based screening program for breast cancer, and this study is an exciting contribution in that respect,” said Tone Hovda, senior radiologist at Vestre Viken Hospital Trust, where the study is running.

Tone Hovda, senior radiologist, Vestre Viken Hospital Trust

Using innovative DNA analysis

Participants of the study will submit a saliva sample, which is sent to Estonia for a genetic data analysis done by the Estonian medical technology company and healthcare service provider Antegenes that has developed the genetic test AnteBC. The AnteBC test is a CE-certified medical device.

The test is used to map a range of gene variants that individually don’t give increased risk for breast cancer, but where the combination of several genes can result in an increased risk. This is called polygenic risk score (PRS) and has never been used in screening programmes in Norway before.

Saliva shows risk of breast cancer

The results from the test will show if the participant has an elevated genetic risk for breast cancer. If it doesn’t, the participant will be recommended to follow the ordinary screening programme for breast cancer in Norway.

If the test shows an elevated risk for breast cancer, the participant will be offered a control scheme, which may include a recommendation of starting regular mammography before they turn 50 years old and/or go to mammography more often than every two years.

“The study analyses a woman’s genetic predisposition to the development of breast cancer, and based on that, provides personalized clinical recommendations for the prevention and early detection of disease. In the pilot study, both a woman’s polygenic risk and, if necessary, the presence of rare single genes that increase the risk of breast cancer will be evaluated,” commented Peeter Padrik, CEO, Antegenes.

Participants will also answer a questionnaire to give background information, such as family history. If there is suspicion of elevated risk of hereditary familial disease, the participant may be offered genetic counselling and extended genetic testing according to current clinical practice.

Towards personalised screening

This initiative is part of the implementation research project AnteNOR, which aims to investigate 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.

The project partners are Oslo University Hospital, the University of Oslo, Vestre Viken Hospital Trust, Oslo Cancer Cluster and Antegenes. It has received funding from The Norway Grants Green ICT programme and runs between 2021-2024.

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

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The post More personalised breast cancer screening first appeared on Oslo Cancer Cluster.