Real-World Impact of a BRCA Testing Protocol in Portugal

TL;DR

This study shows that implementing a standardized BRCA testing protocol significantly increased genetic testing rates in Portuguese oncology centers.

Contribution

The study provides the first multicenter real-world data on BRCA testing in Portugal and demonstrates the effectiveness of protocol-driven approaches.

Findings

BRCA testing rates increased by 109.4% after protocol implementation.

ULS Amadora Sintra saw the highest relative increase of 388.8% in testing rates.

The study supports protocol-driven approaches to improve genetic testing adherence.

Abstract

BRCA1 and BRCA2 are key tumor suppressor genes involved in DNA repair, and their mutations significantly increase the risk of breast, ovarian, prostate, and pancreatic cancers. Despite international guidelines recommending genetic testing in patients meeting specific criteria, BRCA testing remains underutilized in Portugal, limiting early diagnosis and personalized treatment opportunities. This multicenter quality-improvement study aimed to characterize baseline BRCA testing practices and assess the impact of implementing a standardized testing protocol across three oncology centers: Unidade Local de Saúde (ULS) Lisboa Ocidental, ULS Amadora Sintra, and ULS Loures Odivelas. The intervention included baseline data collection, development of a protocol based on international best practices, dissemination to clinical teams, and post-implementation evaluation. At baseline, the three institutions requested an average of 14.16 BRCA tests per month. Following protocol implementation, the average rose to 29.66 monthly tests, representing a 109.4% increase. All centers showed improved testing rates, with the most significant relative rise at ULS Amadora Sintra (388.8%). Although differences between centers likely reflect institutional variation in awareness and resources, these findings support the effectiveness of a protocol-driven approach to improving adherence to genetic testing guidelines. This study presents the first multicenter real-world data on BRCA testing practices in Portugal and underscores the value of local engagement and standardization in advancing precision oncology.

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