Investigating the feasibility of cascade genetic testing for BRCA1/2 in Türkiye: physicians' practices, barriers, and solutions
European Journal of Cancer Care, cilt.2026, 2026 (SCI-Expanded, SSCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 2026
- Basım Tarihi: 2026
- Doi Numarası: 10.48130/ejcc-0026-0010
- Dergi Adı: European Journal of Cancer Care
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Social Sciences Citation Index (SSCI), Scopus, CINAHL, Psycinfo, Academic Search Ultimate (EBSCO), Natural Science Collection (ProQuest), Biological Science Database (ProQuest), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest), Materials Science & Engineering Collection (ProQuest), Technology Collection (ProQuest)
- Anahtar Kelimeler: BRCA1, BRCA2, Breast cancer, Cascade genetic testing, Genetic counseling, Hereditary, Ovarian cancer
- Akdeniz Üniversitesi Adresli: Evet
Özet
Cascade genetic testing is a key strategy for identifying individuals at risk of hereditary cancers, yet its implementation remains suboptimal in many healthcare systems. We evaluated physicians' knowledge, attitudes, and clinical practices regarding BRCA1/2 testing in Türkiye and, from the physicians' perspective, assessed the feasibility of an effective cascade genetic testing model. A nationwide cross-sectional online survey was conducted among physicians involved in the management of BRCA-related cancers, covering experience with BRCA1/2 testing, interpretation of results, and approaches to patient follow-up and family screening. Univariate binary logistic regression examined associations between physicians' characteristics and knowledge, and the likelihood of consistently requesting testing, recommending screening, and referring relatives. Among 206 participants, namely medical oncologists (46.4%), surgeons (35.6%), and medical geneticists (17%), 89.8% frequently or always requested BRCA1/2 testing when indicated. Higher knowledge was strongly associated with ordering tests (odds ratio: 6.1; 95% confidence interval: 3.2–11.7; p < 0.001), recommending screening (p < 0.001), and referring first-degree relatives (p = 0.013). Despite high physician engagement, the participation of relatives in screening was low (3.4% full; 35.0% partial), as was uptake of prophylactic interventions. Although physicians demonstrated high willingness to use BRCA1/2 testing, cascade genetic testing remained insufficient, particularly at the level of family engagement and uptake of preventive care. Physicians' knowledge emerged as a key driver of clinical behaviour. Establishing structured, centralised cascade-coordination models integrated into public health systems may improve the identification and management of at-risk individuals.