แนวคิดหลัก
Population-based BRCA genetic testing for women aged 30 and older could prevent over 2,000 breast cancers and 485 ovarian cancers in Canada, but faces challenges in achieving high uptake and building necessary testing infrastructure.
บทคัดย่อ
The article discusses a study that examined the cost-effectiveness of providing BRCA1 and BRCA2 genetic testing to all women aged 30 and older in the Canadian population, compared to the current practice of testing only those with a family history of breast and ovarian cancer.
The key findings are:
- Population-based BRCA testing was found to be cost-effective, with an incremental cost-effectiveness ratio of CAD $32,276 (US $23,403) per quality-adjusted life year (QALY) from the payer perspective, or CAD $16,416 (US $11,903) per QALY from the societal perspective.
- This population-based approach could prevent 2,555 breast cancers and 485 ovarian cancers per 1 million Canadian women, averting 196 breast cancer deaths and 163 ovarian cancer deaths.
- However, the study's assumption of 100% uptake of genetic testing is unrealistic, as current uptake rates are only 20-30% for eligible and at-risk women. Realistic uptake levels of 20-60% would significantly reduce the cost-effectiveness.
- Additionally, the study does not address the challenge of establishing the necessary testing infrastructure and training more genetic counselors to handle the increased demand from population-based screening.
The article also discusses The Screen Project, an online service in Canada that provides genetic testing for 19 genes, including BRCA1 and BRCA2, for a cost of CAD $400. This was developed to address the limited access to genetic testing under the current guidelines.
สถิติ
Population-based BRCA testing could prevent 2,555 breast cancers and 485 ovarian cancers per 1,000,000 Canadian women.
Population-based BRCA testing could avert 196 breast cancer deaths and 163 ovarian cancer deaths per 1,000,000 women.
The cost of population-based BRCA testing is CAD $32,276 (US $23,403) per QALY from the payer perspective, or CAD $16,416 (US $11,903) per QALY from the societal perspective.
คำพูด
"More than 95% of people who have BRCA genes don't know about it, and 50%-80% of the people who die of BRCA mutation cancers cannot give a strong family history. The health system is not set up to identify and maximize our ability to prevent cancer. We need to change our screening paradigm and look at alternative options."
"While there are too few well-conducted studies examining genetic testing uptake for BRCA1 and BRCA2, the literature suggests that the uptake of currently available genetic testing for eligible and at-risk women is between 20% and 30%. For screening mammography in Canada, participation uptake is just over 60%."