Omorodion Jacklyn O, Nathan Aparna, Lipsitz Stuart, Koyama Satoshi, Perez Emma, Green Robert C, Natarajan Pradeep, Gold Nina B
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.
Department of Biomedical Informatics, Harvard Medical School, Boston, MA.
Genet Med. 2025 Jul;27(7):101444. doi: 10.1016/j.gim.2025.101444. Epub 2025 Apr 19.
The National Comprehensive Cancer Network (NCCN) recommends germline genetic testing for individuals at risk for hereditary ovarian cancer. We sought to determine the proportion and characteristics of individuals meeting testing criteria in a multicenter biobank who were appropriately offered testing.
In this retrospective cohort study, we identified Mass General Brigham Biobank participants meeting genetic testing criteria per NCCN guidelines. Logistic regression was used to analyze sociodemographic factors associated with which participants were offered testing, completed testing, and had a family history that matched their self-report documented in the electronic medical record.
Most eligible participants (909/1441, 63.1%) were not offered genetic testing. Participants who were Black or Hispanic had a lower likelihood of being offered testing. Compared with self-report, 988 (68.6%) participants had a family history of ovarian cancer documented in their electronic medical record. Older age, Hispanic ethnicity, and public insurance use were associated with decreased likelihoods of accurate family history documentation. Correct documentation was associated with an increased likelihood of being offered testing.
The majority of participants in this study did not receive NCCN-compliant care. Germline genetic testing for hereditary ovarian cancer screening is underutilized and access to this testing is currently inequitable.
美国国立综合癌症网络（NCCN）建议对有遗传性卵巢癌风险的个体进行种系基因检测。我们试图确定在一个多中心生物样本库中符合检测标准且被适当提供检测的个体的比例和特征。
在这项回顾性队列研究中，我们确定了符合NCCN指南基因检测标准的麻省总医院布莱根生物样本库参与者。采用逻辑回归分析与哪些参与者被提供检测、完成检测以及其家族史与电子病历中记录的自我报告相匹配相关的社会人口统计学因素。
大多数符合条件的参与者（909/1441，63.1%）未被提供基因检测。黑人或西班牙裔参与者被提供检测的可能性较低。与自我报告相比，988名（68.6%）参与者的电子病历中有卵巢癌家族史记录。年龄较大、西班牙裔种族以及使用公共保险与准确记录家族史的可能性降低相关。正确记录与被提供检测的可能性增加相关。
本研究中的大多数参与者未接受符合NCCN标准的治疗。用于遗传性卵巢癌筛查的种系基因检测未得到充分利用，目前获得这种检测的机会不平等。
