Frey Melissa K, Finch Amy, Kulkarni Amita, Akbari Mohammad R, Chapman-Davis Eloise
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Weill Cornell Medicine, New York, NY.
Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.
Am Soc Clin Oncol Educ Book. 2022 Apr;42:1-12. doi: 10.1200/EDBK_350292.
Nearly 3% of the population carries genetic variants that lead to conditions that include hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants account for approximately 20% of ovarian cancer cases, and those with germline pathogenic variants have an odds ratio between 4 and 40 for developing ovarian cancer compared with noncarriers. Given the high prevalence of genetic variants, multiple organizations, including ASCO, recommend universal genetic counseling and testing for women diagnosed with epithelial ovarian cancer. Unfortunately, most individuals with a hereditary ovarian cancer syndrome are unaware of their underlying mutation, and racial and ethnic minority individuals as well as patients of low socioeconomic status experience disproportionate rates of underrecognition, leading to late and missed diagnoses. In this article, we review the current understanding of disparities in genetic testing for people with ovarian cancer, the role of population-based genetic testing, and innovative strategies to overcome the critical inequities present in current cancer genetic medicine. Underuse and disparities related to accessing recommended genetic services are complex and multifactorial, requiring improvements in processes related to provider identification, genetic counseling and testing referral, and patient uptake/adherence. Through the expansion of remote genetic counseling, offering online strategies for genetic testing, and reaching at-risk relatives through direct relative contact cascade testing and population-based genetic testing, there are a growing number of innovations in the field of genetic medicine, many of which emphasize health equity and offer promising alternatives to the current paradigm of genetic testing.
近3%的人口携带导致遗传性乳腺癌和卵巢癌以及林奇综合征等疾病的基因变异。这些致病变异约占卵巢癌病例的20%，与非携带者相比，携带生殖系致病变异的人患卵巢癌的比值比在4到40之间。鉴于基因变异的高患病率，包括美国临床肿瘤学会（ASCO）在内的多个组织建议对被诊断为上皮性卵巢癌的女性进行普遍的遗传咨询和检测。不幸的是，大多数患有遗传性卵巢癌综合征的个体并不知道自己潜在的突变，少数种族和族裔个体以及社会经济地位较低的患者未被充分识别的比例过高，导致诊断延迟和漏诊。在本文中，我们回顾了目前对卵巢癌患者基因检测差异的理解、基于人群的基因检测的作用，以及克服当前癌症基因医学中存在的关键不平等现象的创新策略。与获得推荐的基因服务相关的使用不足和差异是复杂且多因素的，需要改进与提供者识别、遗传咨询和检测转诊以及患者接受/依从性相关的流程。通过扩大远程遗传咨询、提供基因检测的在线策略，以及通过直接亲属接触级联检测和基于人群的基因检测联系高危亲属，基因医学领域的创新越来越多，其中许多强调健康公平，并为当前的基因检测模式提供了有前景的替代方案。
