Department of Surgery, Medical University of South Carolina, Charleston, SC, USA.
Ann Surg Oncol. 2024 Aug;31(8):5197-5204. doi: 10.1245/s10434-024-15434-2. Epub 2024 May 29.
Currently, racial disparities exist in access to genetic testing. Recent developments have helped narrow the gap in accessibility. The purpose of this study was to determine whether racial disparities in genetic consultation attendance and completion of genetic testing persist, and, if so, factors that contribute to under-utilization of these resources.
A single-institution retrospective review of breast patients referred for genetic counseling between 2017 and 2019 was performed. Univariate and multivariate logistic regression evaluated factors associated with genetic counseling attendance and genetic testing.
A total of 596 patients were referred for genetic counseling: 433 (72.7%) white; 138 (23.2%) black; and 25 (4.2%) other or unknown. In multivariate analysis, black patients, patients without breast cancer family history, and patients without a current cancer diagnosis, classified as high risk, were significantly less likely to attend their genetics appointment (p = 0.010, p = 0.007, p = 0.005, respectively). Age, insurance type, distance from facility, and need for chemotherapy did not significantly impact consult completion rate. Of the patients who completed a genetic consult, 84.4% (n = 248) had genetic testing and 17.7% (n = 44) had a pathogenic variant. For patients who attended counseling, there were no significant factors that were predictive with receipt of genetic testing.
In this study, there was a significant association between race and attending genetic counseling. Once counseled, most patients went on to receive genetic testing, and racial disparities in testing disappeared, emphasizing the value of providing additional education about the importance and purpose of genetic testing.
目前,在获取基因检测方面存在种族差异。最近的发展有助于缩小可及性差距。本研究的目的是确定遗传咨询就诊率和基因检测完成率是否存在种族差异,如果存在,哪些因素导致这些资源利用不足。
对 2017 年至 2019 年间因遗传咨询而被转介的乳腺患者进行了单机构回顾性研究。单变量和多变量逻辑回归评估了与遗传咨询就诊和基因检测相关的因素。
共有 596 名患者因遗传咨询而被转介:433 名(72.7%)为白人;138 名(23.2%)为黑人;25 名(4.2%)为其他或未知。在多变量分析中,黑人患者、无乳腺癌家族史患者和无当前癌症诊断的高风险患者,就诊的可能性显著降低(p = 0.010、p = 0.007、p = 0.005)。年龄、保险类型、距医疗机构的距离和化疗需求对咨询完成率无显著影响。在完成遗传咨询的患者中,84.4%(n = 248)接受了基因检测,17.7%(n = 44)携带致病性变异。对于接受咨询的患者,没有显著的因素可以预测是否接受基因检测。
在这项研究中,种族与接受遗传咨询之间存在显著关联。一旦接受咨询,大多数患者都接受了基因检测,检测中的种族差异消失,这强调了提供更多关于基因检测的重要性和目的的教育的价值。