A research team has found that physicians in Türkiye are highly willing to request BRCA1/2 genetic testing for eligible patients, but the broader cascade-testing process often fails to reach relatives who may carry the same cancer-predisposing variants. Physician knowledge strongly influenced whether testing was ordered, screening was recommended, and relatives were referred. The findings could support the development of centralized, public-health-led services that connect genetic diagnosis with family counseling, surveillance, and preventive care.
Pathogenic inherited variants in BRCA1 and BRCA2 substantially increase the risks of breast, ovarian, prostate, and pancreatic cancers. Cascade genetic testing—systematically offering testing to relatives of people with confirmed variants—can identify high-risk individuals before cancer develops and enable surveillance or risk-reducing surgery. Although international guidelines recommend this approach, implementation remains uneven because of limited awareness, insufficient coordination, concerns about privacy, fragmented follow-up, and difficulties communicating genetic risk within families. A clearer understanding of physicians’ practices and the obstacles they encounter is therefore needed to design an effective national cascade-testing model.
A study (DOI: 10.48130/ejcc-0026-0010 ) published in European Journal of Cancer Care on 31 August 2026 by Irfan Cicin's team, Istinye University, reports that strong physician engagement with BRCA1/2 testing has not yet translated into adequate family participation or uptake of preventive care.
The researchers conducted a nationwide cross-sectional online survey of 206 physicians involved in managing cancers associated with BRCA1/2 . Participants included medical oncologists, surgeons, and medical geneticists working in academic, public, and private healthcare settings across Türkiye. Survey questions examined access to and reimbursement for testing, test-ordering practices, interpretation of results, screening recommendations, referrals of first-degree relatives, genetic counseling, and decisions about preventive surgery. Four questions were used to calculate a knowledge score, while univariate binary logistic regression assessed associations between physician characteristics, knowledge, and clinical behavior. Overall, 89.8% of respondents said they frequently or always requested BRCA1/2 testing when clinically indicated, including 61.2% who always did so. Most reported access to testing in their institution or city, and testing was generally reimbursed through Türkiye's Social Security Institution. However, physician knowledge emerged as the most influential factor: respondents who rated their knowledge of genetic-test interpretation as sufficient or very sufficient were 6.1 times more likely to always request testing than those reporting insufficient knowledge. They were also significantly more likely to recommend screening to BRCA1/2 -positive patients and refer first-degree relatives for testing or counseling. Despite this engagement, substantial gaps appeared beyond the initial patient. Only 9.9% of non-genetic physicians always requested testing for relatives, although 59.3% referred them for genetic counseling. Based on physicians' observations, only 3.4% reported full participation of cancer-free BRCA1/2 carriers in screening, while 35.0% reported participation by most carriers. Uptake of preventive procedures was similarly limited: only 13.6% of physicians reported that all eligible carriers underwent prophylactic mastectomy, and 16.9% reported universal uptake of prophylactic oophorectomy. The researchers also identified fragmented decision-making, limited multidisciplinary tumor-board involvement, and the absence of dedicated follow-up services for cancer-free carriers as important structural barriers.
The study shows that access to testing and physician willingness alone are insufficient to establish effective cascade genetic testing. The authors propose centralized coordination units that could obtain consent, contact relatives, arrange counseling and testing, enroll carriers in structured surveillance programs, and monitor outcomes. Multidisciplinary tumor boards involving medical geneticists and expanded physician education could further improve practice. Although the survey relied on self-reported behavior and indirectly assessed family participation, its nationwide findings identify practical opportunities to strengthen the prevention and early detection of hereditary cancers in Türkiye.
###
References
DOI
Original Source URL
https://doi.org/10.48130/ejcc-0026-0010
About European Journal of Cancer Care
European Journal of Cancer Care (e-ISSN 1365-2354) is an open-access, peer-reviewed journal dedicated to publishing original research on multiprofessional cancer care. The journal provides a forum for multiprofessional and service-user dialogue, and the reporting of original research or rigorous reviews within the field of cancer care both in Europe and internationally.
European Journal of Cancer Care
Investigating the feasibility of cascade genetic testing for BRCA1/2 in Türkiye: physicians' practices, barriers, and solutions
31-Aug-2026
The authors declare that they have no competing interests.