Hea Kolleeg! 

Olete väga oodatud BRIGHT projekti teavitusüritusele – kliinilise uuringu tulemused Eestis ja patsiendikäsitlus, mis toimub kolmapäeval, 8. novembril kl 15.00–17.00 Tartus, Biomeedikumis, Alexander Schmidti keskuses (Ravila 19). Üritusel on võimalik osaleda ka virtuaalselt, registreerides ennast veebi teel osalejaks. BRIGHT Eesti teavitusüritusel tutvustatakse Eesti haru käsitlusi, tulemusi ning rinnavähi täppisennetuse rakendamist rahvusvahelisel tasandil. BRIGHT projekti Eesti partnerid on Tartu Ülikool, Tartu Ülikooli Kliinikum, meditsiinilabor Antegenes ja Tervisekassa. 

BRIGHT rahvusvahelise rakendusuuringu eesmärgiks on rinnavähi geneetilisel riskihinnangul põhineva sõeluuringu käivitamine, kaasates selleks teadus- ja innovatsioonipartnerid, tervishoiuteenuste osutajad, ravikindlustuse pakkujad ja patsiendiorganisatsioonid. 

Rinnavähi täppisennetus on kaasaegses käsitluses digilahendus, mis kombineerib tervisesüsteemis tarkvaralised veebilahendused, logistilised lahendused, tervishoiuasutuste koostöö, geenitestid ja neile järgnevad tervishoiuteenused ühtseks lahenduseks rinnavähi ennetusteenusena rinnavähist tingitud suremuse vähendamiseks. 

Teavitusüritusel osalemisest palume Teil teada anda hiljemalt 3. novembriks täites registreerumise vormi: https://forms.gle/Ck1gxdMMgM191aDM6.  

Ürituse ajakava:  

14.30–15.00 kogunemine, tervituskohv

15.00–16.30 ettekanded 

• meditsiinigeneetika professor Neeme Tõnisson. Avasõnad ning BRIGHT projekti taust ja tutvustus, käsitluse üldine loogika (10 min)
• onkoloog Peeter Padrik „BRIGHT projekti Eesti haru geneetiliste riskide analüüside tulemused“ (10 min)
• pereõde Lota Kiiroja “Perearstikeskuse kogemus rinnavähi täppisennetuse uuringus”  (10 min)
• meditsiiniõde Anette Paas „BRIGHT projekti Eesti haru patsientide tagasiside tulemused“ (10 min)
• analüütik Katrin Lutsar „BRIGHT projekti PRS käsitluse kulutõhususanalüüsi tulemused“ (10 min)
• dr Krista Kruuv-Käo „Rinnavähi täppisennetuse rakendamine Norras, AnteNOR projekti seis ja tulemused“ (10 min)
• onkoloog professor Luis Costa „Breast cancer early detection program in Portugal“ (15 min)
• professor Neeme Tõnisson ja dr Peeter Padrik „Geneetilistel riskidel põhinev rinnavähi täppisennetus. Vaade tagasi, vaade praegusele ja vaade tulevikku“ (15 min)

16.30–17.00 paneeldiskussioon „Kuidas jõuda Eestis parima personaliseeritud rinnavähi täppisennetuseni?“, modereerib professor Neeme Tõnisson

17.00–17.30 lõppsõna ja suupistelaud 

Osalema on kutsutud:  

Patsiendiorganisatsioonid, valdkonna erialaorganisatsioonid ja arstid, rinnavähi ennetustegevusega tegelevad raviasutused, Riigikogu sotsiaalkomisjoni, Sotsiaalministeeriumi, Tervisekassa, Tervise Arengu Instituudi esindajad, tervishoiuvaldkonna meedia esindajad, BRIGHT projekti partnerid, avalikkus. 

Loodame Teiega kohtuda BRIGHT teavitusüritusel! 

Lugupidamisega 

Prof Neeme Tõnisson 

Dr Peeter Padrik 

Estonia hosted NSHG-PM 2023 workshop “Precision Medicine: The Bridge from Research to Healthcare” on June 19-21. Neeme Tõnisson, activity leader of the EIT Health-supported BRIGHT project and Professor of Clinical Genetics at the Institute of Genomics / Estonian Biobank University of Tartu, took part in the round table discussion on polygenic risk scores in clinical applications. He also presented results from a number of studies involving genetic risk factors in Estonian Biobank participants, as well as in participants of the ongoing BRIGHT study.

The panelists Kristi Läll, Joeri Meijsen, Elisabeth Widen and Neeme Tõnisson established that when it comes to polygenic risk scores we are at the beginning of a long journey. It turned in to a lively discussion over current possibilities and limitations to using PRS as well as future potentials for further studies and methods in developing screening programmes. 

The Nordic region could potentially become a pilot for new uses of PRS because we have more data to use and the trust from the public in general. The Nordic Society of Human Genetics and Precision Medicine was created in order to establish a Nordic framework for research into the genetics of human diseases.

The breast cancer genetic risk-based stratified screening service was introduced at the European Society of Human Genetics Conference: preliminary results of the EIT Health BRIGHT project in Estonia.

The purpose of the international BRIGHT project is to implement genetics-based breast cancer precision prevention in European healthcare moving beyond the current standard screening which is offered based on age only. Preliminary results revealed that genetics-based breast cancer precision prevention is feasible using multiple channels for the inclusion of women, including telemedicine solution with home-based genetic testing.

The project uses innovative polygenic risk score test AnteBC, which is developed by health technology company Antegenes, combined with traditional monogenic pathogenic variant testing, and implements different channels for population-based genetic screening.

This innovative approach is led by the BRIGHT consortium, which includes the University of Tartu, Antegenes, Tartu University Hospital, IESE Business School, GE Healthcare, Uppsala Region, Uppsala University Hospital, North Lisbon Central Hospital and Estonian Health Insurance Fund.

The Estonian arm of the project targeted women at age 35-49, which is the age before current standard screening, but among whom 20% of breast cancer cases concur. 800 women with a median age of 42 (range 35-49) were included to the project using 4 different channels: Antegenes’ online portal using home-based testing, pharmacies, a breast clinic, and a family physician service. Approximately 200 women were registered in each channel.

The women who participated in the study took the genetic test AnteBC to assess the polygenic predisposition to breast cancer. AnteBC PRS test can be adjusted to a specific population’s BC risk data and the standard mammography screening starting age. BC screening for younger women is initiated at a time when the predicted individual risk equals the average risk for women aged 50 years, thereby providing more equity.

Results of the polygenic risk score testing with AnteBC test revealed that 124 (15.5%) women had breast cancer risk higher than average risk at age 50. These women should start breast cancer screening already now. Monogenic pathogenic variant (BRCA1, BRCA2, etc) testing were specified using questionnaires according to official indications for these tests.

236 women (29.5%) responded to the feedback questionnaire, which revealed that 99.6% of respondents were glad that they had the opportunity to participate in the BRIGHT project and that the information contained for breast cancer precision screening was adequate, clear and understandable to 98.3% of participants. 11% of the women who participated in the project took the opportunity to receive an additional oral consultation after receiving the results, others felt that written detailed recommendations were sufficient. Feedback data is collected anonymously from study participants and healthcare professionals to assess the feasibility, acceptability, and healthcare system readiness of a stratified cancer screening approach.

The integration of breast cancer polygenic risk score testing and parallel monogenic variants management in healthcare aims to establish a stratified cancer screening approach that ensures better patient outcomes, improved equity, and increased screening participation rates. A similar project is still being conducted in Portugal and Sweden.

The BRIGHT project will result in a holistic personalized BC screening method to offer the best up-to-date clinical practice. It is applicable to all healthy women in the appropriate age group. Women can give a DNA sample during regular check-ups with their family doctor or even comfortably at home. All of this should increase the screening participation rates and reduce BC-caused deaths. The solution is already implemented in Estonian healthcare as an opportunistic breast cancer precision screening.

BRIGHT project has been supported by the European Commission via EIT Health BRIGHT innovation activity (project #220720). For more information about the BRIGHT clinical study and breast cancer risk-based stratified screening service, please visit https://brightscreening.eu.

Conference „The Importance of Early Screening for Breast Cancer“

On May 15, a public event of the BRIGHT project about breast cancer in young women will take place in the Faculty of Medicine of the University of Lisbon. The event is aimed at the entire hospital community, key stakeholders in Portuguese healthcare, healthcare organizations, members of academia, patient associations, and the general public.

The purpose of the BRIGHT (Be RIGHT with breast cancer risk management) project is to test the channels and organization of the implementation of precision breast cancer screening based on genetic risks in the healthcare system of European countries. The goal is to identify a higher risk of breast cancer in young women who are still under 50 years old with a new genetic test. Based on the test results, it is possible to tailor screening and interventions according to that risk. The BRIGHT project is financed by EIT Health and the project takes place in Sweden, Portugal and Estonia.

Conference schedule:

14:30 Prof. Ana Paula Martins, Chairman of the Board of Directors – Opening of the Event

14:40 Prof. Luís Costa, Director Dpt. Oncology  – Breast Cancer in the Young Woman; a Portuguese Perspective 

15:00 Dr Peeter Padrik, CEO Antegenes – Development of breast cancer polygenic risk score test AnteBC and breast cancer precision prevention 

15:30 Prof. Neeme Tõnisson, Clinical Genetics, University of Tartu – Overview of BRIGHT project. How to approach the hereditary breast cancer in precision prevention? 

15:45 Q&A and Coffee Break 

16:00 Tamara Milagre, EVITA – Contribution to early-onset breast cancer prevention and research – Platform EVITA

16:15 Portuguese League Against Cancer – Breast Cancer Screening in Portugal 

16:35  Presentation of the Portuguese BRIGHT Project Team  

16:40 Q&A and Wrap Up 

The event is being recorded and can be viewed later here: http://youtube.com/@centrohospitalaruniversita80.

The BRIGHT information day, held on 9th of December at Park Inn by Radisson Meriton Conference & Spa Hotel, introduced the project and it’s novel objective to implement assessment of individual gentetic risk levels into breast cancer screening programs.

The event was attended by representatives from the Riigikogu Social Affairs Committee, Ministry of Social Affairs, Health Insurance Fund and National Institute for Health Development, members of patient organisations, professional associations and doctors in the field as well as by media representatives, research institutions and the wider public.

Estonian women aged 35-49 can participate in the study “BRIGHT – Be RIGHT with breast cancer management”. The implementation study evaluates the use of a program of genetic risks based personalized breast cancer screening and prevention in Estonian, Swedish and Portuguese healthcare. The study is organized in Estonia by the University of Tartu, medical laboratory Antegenes and Tartu University Hospital. The Estonian Health Insurance Fund participates in the study as an external partner.  

The aim of the BRIGHT study is to test the channels and organization of the implementation of precision breast cancer screening based on genetic risks in the healthcare system of European countries. The study analyses a woman’s genetic predisposition to breast cancer, and based on this, personal medical recommendations and options for breast cancer prevention and early detection are provided. Women aged 35 to 49 years who have not had malignant tumors and who have not previously been tested for breast cancer predisposition based on the polygenic risk score can participate in the study. In Estonia, a total of 800 women can participate in the study. Participation in the study and accompanying health services are free of charge.  

Breast cancer is the most common malignant tumor among Estonian women and the cause of death due to tumors. To detect breast cancer as early as possible and reduce breast cancer mortality, mammographic screening is organized in Estonia for women aged 50–69 years.   

Breast cancer is curable if it’s detected early. “Unfortunately, breast cancer also occurs in younger women, but it is not practical to screen all of them in the same way. Breast cancer has a genetic predisposition, so a woman’s individual genetic breast cancer risk must be considered. That’s why genetic tests are used, with which we can find women with an elevated risk of breast cancer so that they can get to examinations on time,” explained Dr. Kristiina Ojamaa, head of the hematology-oncology clinic at the Tartu University Hospital.   

Oncologist Dr. Peeter Padrik, founder of the medical laboratory Antegenes, said that modern breast cancer prevention must be based on personal risk assessments, and not be done the same way for all women. “I’ve seen enough advanced breast cancers that are caught too late and cannot be cured. With precision breast cancer screening, we can change this situation. We have already developed a full breast cancer precision screening service that assesses both a woman’s polygenic risk and, if necessary, the presence of rare monogenic genes that increase the risk of breast cancer. In the BRIGHT study, together with our partners, we are testing the systematic use of this full service in Estonian healthcare and various channels through which we can involve women,” explained Padrik.  

If participating in the study, the woman will be given a novel genetic test AnteBC, developed by the Estonian medical laboratory Antegenes, to assess the polygenic predisposition to breast cancer. To perform the test, it is necessary to provide a simple and painless sample taken from the mouth with a cotton swab, from which DNA is extracted. With the AnteBC test, a woman’s personal genetic predisposition to the development of breast cancer is assessed, and based on this, recommendations are given at what age and how to start breast cancer mammographic screening. If the results indicate an increased risk, i.e. the need for screening, a digital referral is issued and the woman can participate in breast cancer early detection screening at the appropriate health facilities. In addition, the need for more comprehensive genetic testing by medical geneticists is specified. All tests and medical activities used in the BRIGHT study are health services recognized in Estonia and the European Union.  

“The BRIGHT study is an important project with which we help implement personalized medicine in Estonian healthcare and, on the other hand, take the knowledge to other parts of Europe and immediately test it in their healthcare setting. We actively invite women to join the study, because with your participation you will contribute to the wider adoption of personalized medicine both in Estonia and elsewhere in Europe,” said Dr. Neeme Tõnisson, professor of medical genetics at the University of Tartu, who is the lead researcher of the project.   

The Estonian Committee on Bioethics and Human Research has approved the study. Similar studies are also carried out in cooperation with partners in Sweden and Portugal. The study is supported by the European Commission through the EIT Health organization.  

How to participate in the study? Read more here: https://brightscreening.eu/osalemine/

On January 17, 2022, the kick-off meeting of the BRIGHT project was held in Barcelona, Spain.