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Войти в исследования BMC women's health · 2026
Bridging the gap between guidelines and practice: genetic counseling uptake and barriers in patients with ovarian malignancies.
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Shaalan Walid, Dikow Nicola, Kommoss Felix K F, Smetanay Katharina, Hassan Nourhan, Riedel Maximilian, Fischer Kyra, Stroisch Friederike, Torkildsen Cecilie F, Katsikogianni Foteini, Tretschock Lara Meike, Hassdenteufel Kathrin, Batarseh Dina, Togawa Riku, Schmidt Christina, Azzam Nieto Osama, Deutsch Thomas M, Gerhardt Axel, Hennigs Andre, Nees Lisa Katharina, Hirsch Steffen, Schneeweiss Andreas, Zivanovic Oliver, Riedel Fabian
Аннотация
BACKGROUND: Genetic counseling and germline genetic testing are essential components of ovarian cancer care; however, their implementation in routine clinical practice remains inconsistent. This study aimed to evaluate the utilization of genetic counseling and testing among patients with ovarian cancer and identify barriers to implementation within routine care.
METHODS: A single-center, retrospective questionnaire-based study was conducted among patients who underwent surgical treatment for ovarian malignancies between January 2021 and June 2025. Patient-reported data on information provision, referral pathways, organizational access, satisfaction, and barriers were linked with clinical and demographic characteristics. Descriptive analyses were performed, reflecting the exploratory nature of the study. A problem frequency (PF) framework, defined as the proportion of responses indicating a problem, was applied to identify and rank patient-reported barriers.
RESULTS: Of 321 identified patients, 61 were deceased prior to study initiation. Among 256 successfully contacted patients, 132 responded (51.6%). Overall, 115/132 (87.1%) reported receiving information regarding genetic counseling, primarily from hospital-based physicians (106/132; 80.3%). Among the 132 questionnaire respondents, 96/132 (72.7%) attended genetic counseling and 93/132 (70.5%) proceeded to genetic testing; pathogenic variants were identified in 26/93 tested patients (28.0%). Genetic counseling among respondents increased from 37.5% in 2021 to 94.7% in 2025. The majority of appointments were self-initiated. The most frequently reported barriers were limited information provision, appointment scheduling difficulties, and travel-related barriers, whereas emotional burden at the time of diagnosis was reported less frequently. Uptake was significantly associated with family history of breast and/or ovarian cancer, higher educational attainment, and parity. Notably, nearly half of the participants who had not attended genetic counseling (17/36;47.2%) reported reconsidering uptake after completing the questionnaire.
CONCLUSION: Despite recommendations for universal genetic counseling in ovarian cancer care, gaps in implementation remain evident in routine clinical practice. Organizational and informational barriers represent prominent obstacles to uptake. Our findings highlight the potential value of standardized referral pathways, proactive information provision, and repeated patient engagement to facilitate access to genetic services.
METHODS: A single-center, retrospective questionnaire-based study was conducted among patients who underwent surgical treatment for ovarian malignancies between January 2021 and June 2025. Patient-reported data on information provision, referral pathways, organizational access, satisfaction, and barriers were linked with clinical and demographic characteristics. Descriptive analyses were performed, reflecting the exploratory nature of the study. A problem frequency (PF) framework, defined as the proportion of responses indicating a problem, was applied to identify and rank patient-reported barriers.
RESULTS: Of 321 identified patients, 61 were deceased prior to study initiation. Among 256 successfully contacted patients, 132 responded (51.6%). Overall, 115/132 (87.1%) reported receiving information regarding genetic counseling, primarily from hospital-based physicians (106/132; 80.3%). Among the 132 questionnaire respondents, 96/132 (72.7%) attended genetic counseling and 93/132 (70.5%) proceeded to genetic testing; pathogenic variants were identified in 26/93 tested patients (28.0%). Genetic counseling among respondents increased from 37.5% in 2021 to 94.7% in 2025. The majority of appointments were self-initiated. The most frequently reported barriers were limited information provision, appointment scheduling difficulties, and travel-related barriers, whereas emotional burden at the time of diagnosis was reported less frequently. Uptake was significantly associated with family history of breast and/or ovarian cancer, higher educational attainment, and parity. Notably, nearly half of the participants who had not attended genetic counseling (17/36;47.2%) reported reconsidering uptake after completing the questionnaire.
CONCLUSION: Despite recommendations for universal genetic counseling in ovarian cancer care, gaps in implementation remain evident in routine clinical practice. Organizational and informational barriers represent prominent obstacles to uptake. Our findings highlight the potential value of standardized referral pathways, proactive information provision, and repeated patient engagement to facilitate access to genetic services.