Reducing Breast and Ovarian Cancer Risk with Genetic Testing
Author Information
Author(s): Petelin Lara, Cunich Michelle, Procopio Pietro, Schofield Deborah, Devereux Lisa, Nickson Carolyn, James Paul A., Campbell Ian G., Trainer Alison H.
Primary Institution: Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia
Hypothesis
Can expanding genetic testing for breast cancer patients reduce cancer incidence and improve life expectancy?
Conclusion
Expanding genetic testing to all newly diagnosed breast cancer patients reduces population cancer incidence but does not increase life-years saved compared to optimizing targeted testing.
Supporting Evidence
- Genetic testing can identify individuals at increased risk of breast and ovarian cancer.
- Optimized referral for genetic testing can prevent a significant percentage of breast and ovarian cancers in relatives.
- NEEMO accurately reflects real-world genetic testing practices and outcomes.
- Expanding testing eligibility did not improve life-years saved compared to optimized referral.
Takeaway
This study shows that testing more breast cancer patients for genetic risks can help find more people at risk of cancer, but it doesn't always mean they will live longer.
Methodology
The NEEMO microsimulation model was developed to simulate genetic testing and cancer risk management in Australian families over multiple generations.
Potential Biases
Potential bias in referral rates and genetic testing uptake due to reliance on existing clinical practices.
Limitations
The model simplifies eligibility criteria for genetic testing and does not account for variants of uncertain significance.
Participant Demographics
The study simulated 1 million female probands aged 20-24, including their first- and second-degree relatives.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website