We investigated genetic counseling and testing rates for patients with gynecologic malignancy at a tertiary care center with a large minority population. Our retrospective cohort included newly diagnosed epithelial ovarian, fallopian tube, peritoneal, or endometrial cancer patients between January 2014 and June 2022. For endometrial cancer, 373 patients were identified. A total of 207 (55%) patients were screened using mismatch repair immunohistochemistry (MMR IHC). A total of 82 (40%) had MMR deficiencies on IHC. Of these, 63 (77%) received genetic counseling. A total of 62 (98%) underwent genetic testing, and ultimately, 7 (11%) were diagnosed with Lynch syndrome (LS). The overall rate of LS was 1.9%. MMR IHC testing increased steadily, reaching 100% in 2022. For ovarian cancer, 144 patients were identified. A total of 104 (72%) patients received genetic counseling, and 99 (95%) underwent genetic testing. Rates were not influenced by race, ethnicity, insurance type, or family history of cancer. They were significantly different by cancer stage (p< 0.01). The proportion of patients who received genetic counseling increased from 47% in 2015 to 100% in 2022 (p< 0.01). Most counseling was performed by a gynecologic oncologist (93%) as opposed to a genetic counselor (6.7%). Overall, 12 (8.3%) patients wereBRCA+. High rates of counseling and testing were observed with few disparities.
本研究旨在调查一家拥有大量少数族裔患者的三级医疗中心对妇科恶性肿瘤患者进行遗传咨询与基因检测的实施情况。回顾性队列纳入2014年1月至2022年6月期间新诊断的上皮性卵巢癌、输卵管癌、腹膜癌或子宫内膜癌患者。其中子宫内膜癌患者373例，共有207例（55%）接受了错配修复免疫组化（MMR IHC）筛查。82例（40%）患者存在MMR IHC缺陷，其中63例（77%）接受了遗传咨询。62例（98%）进行了基因检测，最终7例（11%）被诊断为林奇综合征（LS），总体LS检出率为1.9%。MMR IHC检测率稳步上升，至2022年达到100%。卵巢癌患者144例，104例（72%）接受了遗传咨询，99例（95%）进行了基因检测。遗传咨询与检测率未受种族、民族、保险类型或癌症家族史影响，但不同癌症分期之间存在显著差异（p<0.01）。接受遗传咨询的患者比例从2015年的47%上升至2022年的100%（p<0.01）。绝大多数咨询（93%）由妇科肿瘤医生完成，遗传咨询师仅占6.7%。总体BRCA阳性检出率为8.3%（12例）。研究显示该中心遗传咨询与检测率较高，且不同群体间差异较小。
肿瘤(癌症)患者之家