University of Washington School of Medicine, Seattle, Washington, USA.
Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
J Am Med Inform Assoc. 2020 Jul 1;27(9):1443-1449. doi: 10.1093/jamia/ocaa152.
The genetic testing for hereditary breast cancer that is most helpful in high-risk women is underused. Our objective was to quantify the risk factors for heritable breast and ovarian cancer contained in the electronic health record (EHR), to determine how many women meet national guidelines for referral to a cancer genetics professional but have no record of a referral.
We reviewed EHR records of a random sample of women to determine the presence and location of risk-factor information meeting National Comprehensive Cancer Network (NCCN) guidelines for a further genetic risk evaluation for breast and/or ovarian cancer, and determine whether the women were referred for such an evaluation.
A thorough review of the EHR records of 299 women revealed that 24 (8%) met the NCCN criteria for referral for a further genetic risk evaluation; of these, 12 (50%) had no referral to a medical genetics clinic.
Half of the women whose EHR records contain risk-factor information meeting the criteria for further genetic risk evaluation for heritable forms of breast and ovarian cancer were not referred.
在高风险女性中，最有帮助的遗传性乳腺癌基因检测未得到充分利用。我们的目的是量化电子健康记录（EHR）中遗传性乳腺癌和卵巢癌的风险因素，以确定有多少符合国家癌症遗传学专家转诊指南但没有转诊记录的女性。
我们回顾了随机抽取的女性的 EHR 记录，以确定是否存在符合国家综合癌症网络（NCCN）指南的风险因素信息，这些信息需要进一步进行乳腺癌和/或卵巢癌的遗传风险评估，并确定这些女性是否接受了此类评估。
对 299 名女性的 EHR 记录进行了彻底审查，结果显示 24 名（8%）符合进一步遗传风险评估的 NCCN 转诊标准；其中 12 名（50%）没有转诊至医学遗传学诊所。
在 EHR 记录中包含符合遗传性乳腺癌和卵巢癌进一步遗传风险评估标准的风险因素信息的女性中，有一半没有被转诊。
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