Thorton Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of Virginia, Charlottesville, VA, USA.
University of Virginia School of Medicine, Charlottesville, VA, USA.
Fam Cancer. 2019 Jul;18(3):303-309. doi: 10.1007/s10689-019-00129-5.
The hereditary contribution to ovarian cancer has been increasingly recognized over the past decade, with a 2014 Society of Gynecologic Oncology (SGO) recommendation for all women with epithelial ovarian cancer to be considered for genetic testing. The objective of the study was to determine if disparities exist in genetic referrals and characterize referral patterns over time. A retrospective cohort study included all women diagnosed with invasive epithelial ovarian cancer at the University of Virginia from 2004 to 2015. Clinicopathologic data were abstracted from the electronic medical record and analyzed for association with genetic referral and testing. We identified 696 cases, with a median age of 62 years and a median follow up of 25.2 months (range 1-115). Thirty-four percent were referred for genetic counseling with an 80% genetic testing rate in those women. Referrals increased from a rate of 8% in 2004 to 68% in 2015. On multivariable analysis, papillary serous histology (OR 1.6, 95% CI 1.0-2.6), stage III disease (OR 3.4, 95% CI 1.6-7.5), ovarian cancer family history (OR 2.6, 95% CI 1.5-4.6), breast cancer family history (OR 1.7, 95% CI 1.1-2.5), and diagnosis after 2014 (OR 2.3, 95% CI 1.3-4.1) remained significantly associated with genetics referral. Older age and living > 100 miles away were associated with decreased referral (OR 0.97, 95% CI 0.95-0.99 per year and OR 0.49, 95% CI 0.28-0.86). As only 68% of women with epithelial ovarian cancer were referred in 2015 innovative strategies such as Medicare coverage for counseling are still needed to universalize testing.
在过去的十年中，人们越来越认识到卵巢癌的遗传性贡献，2014 年妇科肿瘤学会 (SGO) 建议所有上皮性卵巢癌患者都应考虑进行基因检测。本研究的目的是确定遗传咨询是否存在差异，并描述随时间推移的咨询模式。这是一项回顾性队列研究，纳入了 2004 年至 2015 年期间在弗吉尼亚大学诊断为浸润性上皮性卵巢癌的所有女性。从电子病历中提取临床病理数据，并分析其与遗传咨询和检测的关系。我们共确定了 696 例患者，中位年龄为 62 岁，中位随访时间为 25.2 个月（范围 1-115）。34%的患者接受了遗传咨询，其中 80%的患者进行了基因检测。从 2004 年的 8%到 2015 年的 68%，咨询率逐渐增加。多变量分析显示，乳头状浆液性组织学（OR 1.6，95%CI 1.0-2.6）、III 期疾病（OR 3.4，95%CI 1.6-7.5）、卵巢癌家族史（OR 2.6，95%CI 1.5-4.6）、乳腺癌家族史（OR 1.7，95%CI 1.1-2.5）和 2014 年后诊断（OR 2.3，95%CI 1.3-4.1）与遗传咨询显著相关。年龄较大和居住距离>100 英里与咨询减少相关（每年 OR 0.97，95%CI 0.95-0.99；OR 0.49，95%CI 0.28-0.86）。2015 年仅有 68%的上皮性卵巢癌患者接受了咨询，因此仍需要医疗保险覆盖咨询等创新策略，以普及检测。
