Sin Margaret, McGuinness Julia E, Trivedi Meghna S, Vanegas Alejandro, Silverman Thomas B, Crew Katherine D, Kukafka Rita
Columbia University Medical Center, New York, NY.
AMIA Annu Symp Proc. 2018 Dec 5;2018:970-978. eCollection 2018.
Genetic testing is a method to assess hereditary cancer risk. However, it is under-utilized and various methods of family history intake have been evaluated in previous studies. The six-point-scale (SPS) is a validated family history screener that is used to determine eligibility for BRCA genetic counseling. We automated the calculation of the SPS score using structured family history data along with free text from the electronic health record (EHR) to detect detailed family history information of breast cancer. We extracted data for all women aged 35 to 74 who had screening mammography at Columbia University Medical Center (CUMC) from January 2015 to May 2017 (N=37,596). After we calculated SPS scores using structured and free-text EHR data, we compared the results with SPS score calculated from a baseline survey conducted for a prospective study called Know Your Risks: Assessment at Screening (KYRAS). Among 1,202 patients with EHR structured family history data, we found 1.43% had an SPS score of 6 higher which meets criteria for genetic counseling referral, while 12.05% of the survey respondents had SPS score of 6 or higher. Results show there is a need for more efficient methods to identify patients eligible for genetic counseling through EHR analysis.
基因检测是一种评估遗传性癌症风险的方法。然而，它的使用不足，并且在先前的研究中已经评估了各种家族史收集方法。六点量表（SPS）是一种经过验证的家族史筛查工具，用于确定是否有资格接受BRCA基因咨询。我们利用结构化家族史数据以及电子健康记录（EHR）中的自由文本自动计算SPS评分，以检测乳腺癌的详细家族史信息。我们提取了2015年1月至2017年5月在哥伦比亚大学医学中心（CUMC）进行乳腺筛查的所有35至74岁女性的数据（N = 37,596）。在使用结构化和自由文本EHR数据计算SPS评分后，我们将结果与一项名为“了解你的风险：筛查评估”（KYRAS）的前瞻性研究进行的基线调查所计算的SPS评分进行了比较。在1202例有EHR结构化家族史数据的患者中，我们发现1.43%的患者SPS评分为6或更高，符合基因咨询转诊标准，而调查受访者中有12.05%的人SPS评分为6或更高。结果表明，需要更有效的方法通过EHR分析来识别有资格接受基因咨询的患者。
