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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.

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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.

Project partners:

Funded by:

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Preventing breast cancer in Norway

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A new research project is exploring how polygenic risk score tests can be used for early detection and prevention of breast cancer in Norway.

Your genes can reveal more about your future than you might realise. New testing technology called polygenic risk scores provide a measure of your personal risk to develop a disease due to your genes.

The research project AnteNOR is exploring how these tests can be implemented in Norway to prevent and detect breast cancer earlier.

“We need tools for more precise screening. Many cancer risks come from our genetic dispositions, and we can identify individual risk levels for common cancers with personalized screening,” said Peeter Padrik, CEO of the Estonian company Antegenes, which offers clinical grade genetic tests for cancer precision prevention.

Breast cancer screening in Norway is done through the mammography programme, coordinated by the Norwegian Cancer Registry, and usually starts when a woman turns 50. However, 20 per cent of all breast cancer cases happen to women who are younger than 50 years old. Some of these women could benefit from taking the polygenic risk score test. 

“We are currently seeing a revolution in cancer diagnostics, treatments, and care. We believe personalised approaches have the potential to transform cancer from a deadly disease to a disease patients live well with. Identifying breast cancer early by using genetic tests is part of this revolution,” said Ketil Widerberg, general manager at Oslo Cancer Cluster.

The project is a public-private collaboration between Antegenes, Oslo Cancer Cluster and some of Norway’s top cancer research and hospital environments at the University of Oslo, Oslo University Hospital and Vestre Viken Hospital Trust.

The AnteNOR partners will together investigate how to create models for new screening programmes, where genetics-based screening can be used. The project also investigates how to implement these new approaches in the clinic and national health service.

The project has been funded by the Norway Grants Green ICT Programme and will be carried out in 2022-2023.