Background: Recommendations state all people with ovarian cancers (OCs) receive genetic counseling, but testing uptake is only between 15 and 31%. Those with a prior diagnosis of OC who have not received genetic testing represent a missed opportunity for life-saving genetic risk information. The Genetic Risk Analysis in ovarian CancEr (GRACE) study aimed to evaluate the feasibility of the retrospective identification (“Traceback”) of individuals diagnosed with OC. Methods: This nonrandomized intervention study within two integrated health care systems identified participants with a history of OC between 1998 and 2020 who did not have genetic testing or testing limited to BRCA1/2. Participants received clinical genomic sequencing via a custom 60 gene panel. This study measured the feasibility of the Traceback methodology in OC survivors. Results: The initial cohort included 929 individuals, of which 57% had no prior genetic testing. Of the 302 eligible for recruitment, 88 consented to participate. We were able to outreach 97% of the eligible population using contact information from medical records. The stage at diagnosis was the only factor associated with consent. Of the 78 who returned their saliva sample, 21% had pathogenic/likely pathogenic variants, and 79% had negative results. Conclusion: The GRACE study resulted in a 29% uptake of genetic testing in OC survivors. The time since diagnosis did not have an impact on consent or ability to contact. GRACE can inform the implementation of future Traceback programs, providing guidance on how to prevent and mitigate the burden of OC and other hereditary cancers.
背景：指南建议所有卵巢癌患者均应接受遗传咨询，但实际检测率仅为15%至31%。既往确诊卵巢癌却未接受基因检测的患者，错失了获取可能挽救生命的遗传风险信息的机会。卵巢癌遗传风险分析（GRACE）研究旨在评估对确诊卵巢癌个体进行回顾性识别（"追溯"）的可行性。方法：这项在两个综合医疗系统内开展的非随机干预研究，纳入了1998年至2020年间确诊卵巢癌、未接受基因检测或仅接受BRCA1/2检测的参与者。通过定制60基因检测组合对参与者进行临床基因组测序。本研究评估了在卵巢癌幸存者中应用追溯方法的可行性。结果：初始队列包含929名个体，其中57%既往未接受基因检测。在302名符合招募条件的个体中，88人同意参与研究。利用医疗记录中的联系信息，我们成功联系到97%的符合条件人群。诊断分期是唯一与同意率相关的因素。在78名返回唾液样本的参与者中，21%检出致病性/可能致病性变异，79%检测结果为阴性。结论：GRACE研究使卵巢癌幸存者的基因检测接受率达到29%。确诊时间长短对同意率或联系成功率均无影响。该研究可为未来追溯项目的实施提供参考，为预防和减轻卵巢癌及其他遗传性癌症负担提供指导。
肿瘤(癌症)患者之家