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BRIGHT studies (Be RIGHT with Breast Cancer Risk Management) was launched in 2022 and aims to evaluate precision screening using individual genetic risks in healthcare in Sweden, Estonia and Portugal. In Sweden, the study is led by the Academic Hospital/Region Uppsala.
– We are surprised that so many young women showed an increased genetic risk for breast cancer. According to the preliminary results, roughly 16 percent of women aged 30–49 have an estimated higher breast cancer risk than the average for 50-year-old women. With the increased risk, affected women are recommended to book a consultation at the breast cancer clinic to discuss individually adapted screening strategies and preventive measures, says Inna Feldman, health economist and project manager for the study in Uppsala.
In Sweden, breast cancer is the most common cancer in women. Here, women aged 40–74 are called to mammographic screening with the aim of detecting breast cancer as early as possible and reducing mortality.
According to Andreas Karakatsanis, senior physician at the breast clinic, Academic Hospital, the current age-based method of breast cancer screening is insufficient.
– It is not appropriate to screen all women in the same way. Breast cancer is partly due to genetic factors, so the starting point must be the woman’s individual genetic risk for breast cancer. For this, genetic tests are used with which we find women with an increased risk, so that they can come to the examination in time, he explains.
The BRIGHT study runs from 2022-2024 and started in Uppsala a year ago. Since then, approximately 800 women aged 30-49 have been recruited in Sweden. The study evaluates a method for precision screening of breast cancer that is based on genetic predisposition and increased risk in the women. Participants are tested through a simple and painless sample from the mouth with a cotton swab, from which DNA can be extracted. The risk is assessed using Polygenic Risk Scores (PRS), a test which is based on multiple variations in a person’s DNA. The test provides important additional information to clinical information. Based on the risk, the women receive tailored personal screening recommendations already from the age of 30-35, which enables prevention and early detection of breast cancer.
According to the researchers, by including the PRS technology in a customized screening program for breast cancer, people with a higher genetic risk can be identified with greater precision.
– This makes it possible to start screening and preventive measures at more appropriate times for those at increased risk compared to current standardized mammography, Inna Feldman emphasizes and continues:
– In the long term, we expect to achieve a 20 to 40 percent reduction in cancer-related mortality in the age group 40 to 49 years. Another important goal of the new approach is to optimize the use of health care resources by ensuring that interventions are more effectively allocated to those most in need.
Nota bene: Two feedback surveys have been completed with participants, with 75 percent indicating that they were able to handle their genetic risk information well. Almost all participants (92 percent) were satisfied with their participation in the BRIGHT project, finding the information clear and understandable, and feeling reassured after receiving the report
FAKTA: BRIGHT-studien (Be RIGHT with Breast Cancer Risk Management)
- Runs 2022-2024 in Sweden, Estonia and Portugal. The study is supported by the European Commission through the organization EIT Health.
- The main aim is to improve early detection of breast cancer based on genetic risk, as opposed to today’s standardized screening which is based only on age.
- The target group is women between the ages of 30 and 49 who have no history of malignant tumors and who have not previously been tested for genetic predisposition to breast cancer using polygenic risk analysis. The women undergo a genetic test where several genes are analysed, which are spread over the chromosomes but which all affect the same characteristic.
- In Sweden, a total of 800 women can participate in the study. Both participation in the study and associated care services are free.
- The women’s personal genetic predisposition to breast cancer is assessed with a PRS test/ AnteBC test. It is a CE marked in vitro diagnostic medical device validated using Estonian and UK biobank data.
- The risk is assessed with a combination of clinical information and the Polygenic Risk Score” (PRS). Based on the test results, the women receive recommendations about at what age and how she should start participating in mammography screening. In addition, the need for more detailed genetic examination by medical geneticists is specified.
- All tests and medical measures used in the BRIGHT study are approved healthcare services in Sweden and the EU.
