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<p>BRCA1/2 germline pathogenic variants confer markedly elevated lifetime risks for breast, ovarian, prostate, and pancreatic cancers. Preimplantation genetic testing for monogenic disorders (PGT-M) is an embryo-selection step performed within an in vitro fertilization (IVF) cycle that enables carriers to select embryos unaffected by the familial pathogenic variant, substantially reducing—though not eliminating—the risk of transmission. Despite regulatory approval by ESHRE since 2003 and accumulating evidence of clinical and cost-effectiveness, PGT-M remains systematically underutilized in Türkiye. This study aimed to simultaneously assess PGT-M knowledge and attitudes among physicians managing BRCA-positive individuals and among patients and carriers themselves, to quantify the knowledge-action gap, and to characterize PGT counseling practices. A cross-sectional dual-survey study was conducted including 206 physicians and 72 BRCA1/2-positive individuals. Descriptive statistics and subgroup comparisons were performed. Binary logistic regression identified factors associated with adequate physician knowledge. Only 33.0% of physicians reported adequate perceived knowledge, whereas 80.1% considered it medically appropriate and 71.8% would recommend it, demonstrating a marked knowledge–attitude paradox. Excluding genetics and gynecology specialists, adequate perceived knowledge dropped to 16.2%. Among patients, 69.4% had never received PGT information during counseling, and only 16.7% would consider PGT. Younger patients (&lt; 40 years) showed numerically higher receptivity (28.6% vs. 11.8% in those aged ≥ 40 years), although this difference was not statistically significant. In Turkish BRCA clinical practice, positive attitudes toward PGT coexist with substantial knowledge deficits. Patients under 40, who carry the greatest reproductive urgency and highest potential benefit from PGT, are more receptive but remain inadequately counseled. Integrating PGT into routine genetic counseling protocols, implementing specialty-targeted continuing medical education focusing on medical oncology and surgery, and establishing national oncofertility coordination may represent important strategies toward closing this gap.</p>

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Preimplantation genetic testing (PGT-M) awareness in BRCA-positive individuals in Türkiye: a dual physician–patient survey

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月7日

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  • Irfan Cicin,
  • Taha Bahsi,
  • Fatih Kose,
  • Tulay Kus,
  • Yesim Eralp,
  • Yüksel Urun,
  • Umut Demirci,
  • Mustafa Bozkurt,
  • Mehmet Ali Nahit Sendur,
  • Muhammed Ali Kaplan,
  • Ahmet Bilici,
  • Sema Sezgin Goksu,
  • Hasan Karanlı,
  • Omer Fatih Olmez,
  • Cagatay Arslan,
  • Nuri Karadurmus,
  • Cihan Comba,
  • Evren Suer,
  • Zafer Arık,
  • Saadettin Kilickap

摘要

BRCA1/2 germline pathogenic variants confer markedly elevated lifetime risks for breast, ovarian, prostate, and pancreatic cancers. Preimplantation genetic testing for monogenic disorders (PGT-M) is an embryo-selection step performed within an in vitro fertilization (IVF) cycle that enables carriers to select embryos unaffected by the familial pathogenic variant, substantially reducing—though not eliminating—the risk of transmission. Despite regulatory approval by ESHRE since 2003 and accumulating evidence of clinical and cost-effectiveness, PGT-M remains systematically underutilized in Türkiye. This study aimed to simultaneously assess PGT-M knowledge and attitudes among physicians managing BRCA-positive individuals and among patients and carriers themselves, to quantify the knowledge-action gap, and to characterize PGT counseling practices. A cross-sectional dual-survey study was conducted including 206 physicians and 72 BRCA1/2-positive individuals. Descriptive statistics and subgroup comparisons were performed. Binary logistic regression identified factors associated with adequate physician knowledge. Only 33.0% of physicians reported adequate perceived knowledge, whereas 80.1% considered it medically appropriate and 71.8% would recommend it, demonstrating a marked knowledge–attitude paradox. Excluding genetics and gynecology specialists, adequate perceived knowledge dropped to 16.2%. Among patients, 69.4% had never received PGT information during counseling, and only 16.7% would consider PGT. Younger patients (< 40 years) showed numerically higher receptivity (28.6% vs. 11.8% in those aged ≥ 40 years), although this difference was not statistically significant. In Turkish BRCA clinical practice, positive attitudes toward PGT coexist with substantial knowledge deficits. Patients under 40, who carry the greatest reproductive urgency and highest potential benefit from PGT, are more receptive but remain inadequately counseled. Integrating PGT into routine genetic counseling protocols, implementing specialty-targeted continuing medical education focusing on medical oncology and surgery, and establishing national oncofertility coordination may represent important strategies toward closing this gap.