BRIGHT Breast Cancer Precision Prevention – Presenting Results from Sweden, Estonia and Portugal

EIT Health-funded BRIGHT project investigates stratified breast cancer screening based on genetic risk estimated with polygenic risk scores. This involves assessing women for their genetic predisposition to breast cancer from the age of 35 or 40 and provide personalized risk-based screening recommendations. The project includes clinical studies in Estonia, Sweden and Portugal. Each country has recruited 800 women in the clinical implementation study. 

The goal of the international BRIGHT project is to implement screening based on genetic risk assessment for breast cancer, involving research and innovation partners, healthcare providers, health insurance providers and patient organizations. 

BRIGHT project partners are Region Uppsala, North Lisbon University Hospital Centre, University of Tartu, Tartu University Hospital, Antegenes, Estonian Health Insurance Fund, IESE Business School and GE Healthcare. 

The seminar presents preliminary results and discusses the opportunities related to implementation of breast cancer precision prevention in healthcare. You can also participate in the event through Zoom by registering yourself in the registration form, and the link will be sent to your email before the event.

Date: Monday, April 22, 2024
Time: 14.00-16.00
Venue: Psykiatrin hus, Nordlandersalen
Akademiska Sjukhuset (Uppsala University Hospital)

Please inform us of your participation in the event by filling out the registration form: https://forms.gle/1c2EhqWR4gYkBXt18

Event Schedule:

14.00-14.05: Welcome and Introductions
Presenter: Ass. Prof. Inna Feldman, Region Uppsala

14.05-14.15: BRIGHT Project
Presenter: Prof. Neeme Tõnisson, University of Tartu

14.15-14.40: Clinical Study in Uppsala
Presenters: Ass. Prof. Inna Feldman, Region Uppsala
Ass. Prof. Andreas Karakatsanis, Uppsala University Hospital

14.40-14.55: BRIGHT Results from Other Countries – Estonia and Norway
Presenter: Dr. Krista Kruuv-Käo, Antegenes Estonia

14.55-15.10: BRIGHT Results from Other Countries – Portugal
Presenter: Prof. Luis Costa, Hospital de Santa Maria

15.10-15.35: Preliminary Cost-Effectiveness Results
Presenter: Ass. Prof. Filipa Sampaio, Region Uppsala

15.35-16.00: Panel Discussion
Moderator: Dr. Robert Kristiansson, Region Uppsala

Scientific Publication published in the journal “Breast Cancer: Basic and Clinical Research”

Our recently published peer-reviewed article, “Implementation of Risk-Stratified Breast Cancer Prevention With a Polygenic Risk Score Test in Clinical Practice,” in the journal “Breast Cancer: Basic and Clinical Research,” is one of the first scientific papers describing the introduction of a polygenic risk score into routine clinical practice. In the article, we detail the development and validation of a breast cancer polygenic risk score genetic test, the creation of its clinical usage model and test report, as well as initial results from its application in Estonian healthcare for breast cancer prevention based on individual genetic risks.

Implementation of Risk-Stratified Breast Cancer Prevention With a Polygenic Risk Score Test in Clinical Practice

Breast cancer (BC) screening with mammography reduces mortality but considers currently only age as a risk factor. Personalized risk-based screening has been proposed as a more efficient alternative. For that, risk prediction tools are necessary. Genome-wide association studies have identified numerous genetic variants (single-nucleotide polymorphisms [SNPs]) associated with BC. The effects of SNPs are combined into a polygenic risk score (PRS) as a risk prediction tool. We aimed to develop a clinical-grade PRS test suitable for BC risk-stratified screening with clinical recommendations and implementation in clinical practice.

In the first phase of our study, we gathered previously published PRS models for predicting BC risk from the literature and validated them using the Estonian Biobank and UK Biobank data sets. We selected the best performing model based on prevalent data and independently validated it in both incident data sets. We then conducted absolute risk simulations, developed risk-based recommendations, and implemented the PRS test in clinical practice.

In the second phase, we carried out a retrospective analysis of the PRS test’s performance results in clinical practice. The best performing PRS included 2803 SNPs. The C-index of the Cox regression model associating BC status with PRS was 0.656 (SE = 0.05) with a hazard ratio of 1.66. The PRS can stratify individuals with more than a 3-fold risk increase. A total of 2637 BC PRS tests have been performed for women between the ages 30 and 83. Results in clinical use overlap well with expected PRS performance with 5.7% of women with more than 2-fold and 1.4% with more than 3-fold higher risk than the population average.

The PRS test separates different BC risk levels and is feasible to implement in clinical practice.

Read more here: https://journals.sagepub.com/doi/10.1177/11782234231205700