Italian experts have released a multidisciplinary consensus paper defining the pathway for predictive BRCA genetic testing in breast cancer diagnosis.
The guidelines emphasize streamlined access to testing and uniform management to support targeted therapies such as PARP inhibitors. The consensus involved eight professional societies including oncologists, surgeons, pathologists, geneticists, and radiologists, underscoring the importance of integrated care.
The position paper addresses critical issues such as eligibility for genetic counseling, strategies for testing patients with specific clinical or family history profiles, and recommendations for contralateral prophylactic mastectomy in BRCA mutation carriers.
It highlights the need to reduce regional disparities and long wait times for genetic services, calling for shared diagnostic therapeutic care pathways (PDTA) with defined timeframes, enhanced training, and stronger referral centers.
With the rise of targeted therapies, the experts stress that genetic testing is evolving beyond risk assessment to a key theragnostic biomarker guiding individualized treatment and family prevention.
The consensus advocates mainstreaming genetic testing through oncologist-led referrals, complemented by genetic counseling, despite challenges posed by workforce shortages and variable oncologist training.
Future approaches may integrate molecular data with clinical characteristics using AI to optimize risk stratification and treatment prediction.
These recommendations result from extensive collaboration among 33 clinicians across multiple Italian scientific societies, aiming to create uniform, evidence-based workflows for BRCA testing in breast cancer diagnosis and treatment planning.
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