Breast cancer Cancer
Conditions
Interventions
Personalized referral to mammography screening by polygenic risk score and monogenic pathogenic variant (MPV)-based risk level estimates.
Interventions are made according to the estimated breast canc
protocols in Sweden and Portugal have slight differences, based on the local screening practice):
1. Screening mammography
2. MD consulting
3. Magnetic resonance tomography of breasts
4. Hormonal chem
Sponsors
EIT Health e.V.
Eligibility
Sex/Gender
Female
Inclusion criteria
Inclusion criteria: In Estonia and Portugal: 1. Healthy women aged between 35 and 49 years old (women currently not invited into regular BC screening) In Sweden: 1. Healthy women aged between 30 and 39 years old (women currently not invited into regular BC screening 2. Healthy women aged between 40 and 50 years old (current BC screening group before 50)
Exclusion criteria
Exclusion criteria: 1. Women already diagnosed with malignancies or hereditary cancer syndromes 2. Women already tested for MPVs and PRS 3. Ashkenazy Jewish ethnicity
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The impact of implementing a population-based genetics testing strategy for breast cancer precision prevention measured using polygenic risk score and monogenic pathogenic variant (MPV) testing. The estimated risk levels (standard deviation units compared to the population average; 10-year risk levels of breast cancer) are calculated by AnteBC® CE IVDD breast cancer polygenic risk score test (Estonian Medical Devices Registry #14726 Antegenes OÜ, Tartu, Estonia) within 6 to 8 weeks after recruitment and submitted to healthcare providers’ information systems (Estonia/Sweden/Portugal), as well as to participants (Estonia). The indication for monogenic pathogenic variant testing is estimated by the corresponding questionnaire completed by participants at recruitment and participants referred to clinical geneticist’s counselling. If MPV is found, the interventions will follow the MPV routine. Otherwise, interventions will be based on polygenic risk score reports. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Feasibility of a population-based genetic testing strategy for BC precision prevention measured by participant, medical professional and stakeholder feedback at the end of the clinical study, either risk and intervention reports provided to the participants, or after first interventions including mammography and other imaging/oncology interventions if applicable 2. Clinical utility of a population-based genetic testing strategy for BC precision prevention, measured by clinical outcomes and long-term modelling at the study end. The researchers plan an additional long-term follow-up of the study cohort. The results will be compared to the Estonian Biobank cohort data on regular breast cancer screening cases with extended follow-up data available. 3. Cost-effectiveness of a population-based genetic testing strategy for BC precision prevention measured by cost-efficiency calculations, based on actual interventions and modelled follow-up data at study end | — |
Countries
Estonia, Portugal, Sweden
Outcome results
None listed