Real-World Impact of a BRCA Testing Protocol in Portugal
Mariana Malheiro1,2, Bruno Silva3, João Rosa4
1Medical Oncology, Hospital CUF Tejo, Lisbon, PRT.
Cureus
|July 28, 2025
Summary
Implementing a standardized protocol significantly increased BRCA genetic testing rates by over 100% in Portuguese oncology centers, improving access to early cancer diagnosis and personalized treatments.
Area of Science:
- Oncology
- Genetics
- Public Health
Background:
- BRCA1 and BRCA2 gene mutations are linked to increased risks for breast, ovarian, prostate, and pancreatic cancers.
- Underutilization of BRCA genetic testing in Portugal hinders early diagnosis and personalized cancer care.
- International guidelines exist but adherence is suboptimal.
Purpose of the Study:
- To assess BRCA testing practices in three Portuguese oncology centers.
- To evaluate the impact of a standardized testing protocol on BRCA testing rates.
- To provide the first multicenter real-world data on BRCA testing in Portugal.
Main Methods:
- A quality-improvement study was conducted across three ULS centers.
- Baseline BRCA testing data was collected.
- A standardized protocol based on international guidelines was developed and implemented.
- Post-implementation testing rates were evaluated.
Main Results:
- Average monthly BRCA tests increased from 14.16 to 29.66, a 109.4% rise.
- All participating centers demonstrated improved testing rates.
- ULS Amadora Sintra showed the largest relative increase (388.8%).
Conclusions:
- A protocol-driven approach effectively enhances adherence to BRCA genetic testing guidelines.
- Standardization and local engagement are crucial for advancing precision oncology.
- The study highlights the need for improved BRCA testing uptake in Portugal.
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