Research Article: Awareness, uptake, and determinants of germline genetic testing in Chinese epithelial ovarian cancer patients: a cross-sectional study
Abstract:
Various guidelines recommend offering germline genetic testing to all patients diagnosed with epithelial ovarian cancer, as it helps guide treatment decisions, identify cancer risks in other organs, and empowers patients to notify families for timely screening and risk-reducing surgery. Our study aimed to explore the awareness and uptake rate of germline genetic testing among Chinese women with epithelial ovarian cancer, and to analyze the determinants influencing their decision.
A cross sectional study was conducted at Obstetrics and Gynecology Hospital of Fudan University between November 2023 to September 2024. A questionnaire was used to assess patients’ awareness of germline genetic testing. Disease-related data were extracted from electronic medical records. Binary logistic regression analysis was performed to identify factors associated with uptake of germline genetic testing.
Of the total 154 patients included, 100 underwent germline genetic testing, with an uptake rate of 64.94%. Among included patients, 62.99% demonstrated low awareness of germline genetic testing and 37.01% exhibited a high level of awareness. Logistic regression analysis showed that higher monthly per-capita household income (OR = 3.30, 95 % CI 1.24-8.75, P = 0.017), a family history of BRCA -related cancers (OR = 6.30, 95% CI 1.16-34.12, P = 0.033), and high awareness of germline genetic testing (OR = 8.81, 95 % CI 2.58-30.12, P = 0.001) were associated with a significantly increased likelihood of undergoing testing. Additionally, 19.6% of the tested patients carried a pathogenic variant.
Among Chinese patients with epithelial ovarian cancer, awareness of germline genetic testing is generally low, with critical deficiencies in knowledge that directly inform clinical decision-making and familial risk management. Nearly two-thirds of patients diagnosed with epithelial ovarian cancer had undergone germline genetic testing. Socioeconomic status, family history of associated cancer, and patients’ awareness of genetic testing are the principal determinants of germline genetic testing utilization in this population.
Introduction:
Ovarian cancer remains the most lethal gynecological cancer. It is classified into different histological types, with epithelial ovarian cancer being the most common and having the highest mortality rate. Studies have shown that 15-25% of ovarian cancers are caused by inherited genetic mutations ( 1 – 4 ). A growing body of evidence highlights the critical role of genetic factors in ovarian cancer pathogenesis, particularly pathogenic variants in ovarian cancer susceptibility genes such as BRCA1 , BRCA2 , MLH1 ,…
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