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利用、时机和结果的 BRCA 基因检测的女性新诊断的乳腺癌从全国商业保险人群: ABOARD 研究。

Utilization, Timing, and Outcomes of BRCA Genetic Testing Among Women With Newly Diagnosed Breast Cancer From a National Commercially Insured Population: The ABOARD Study.

机构信息

Aetna, Women's Health, Hartford, CT.

Health Informatics Institute, Morsani College of Medicine, University of South Florida, Tampa, FL.

出版信息

JCO Oncol Pract. 2021 Feb;17(2):e226-e235. doi: 10.1200/OP.20.00571.

Abstract

PURPOSE

To evaluate timing and outcomes of BRCA testing and definitive surgical treatment among patients with newly diagnosed breast cancer.

METHODS

Patient-reported (n = 1,381) and deidentified health-plan (n = 2,369) data were analyzed from a consecutive national series of 3,750 women whose healthcare providers ordered BRCA testing between March 2014 and June 2015, within 1 year following breast cancer diagnosis.

RESULTS

Among 1,209 respondents, 54.4% received the genetic test results presurgery, 23.2% tested presurgery but received the results postsurgery, and 22.3% tested postsurgery. Patients aware of mutation-positive results presurgery were more likely to choose bilateral mastectomy (BLM) (n = 32/37) compared with patients who learned of positive results postsurgery (n = 14/32), (odds ratio [OR] = 8.23, 95% CI = 2.55 to 26.59, < .001). When compared with women tested postsurgery, only women unaware of negative results presurgery had higher BLM rates (adjusted OR = 1.70, 95% CI = 1.07 to 2.69, = .02). Among women > 50 tested presurgery, those unaware of negative results presurgery were more likely to choose BLM (n = 28/81) compared with those aware of negative results (n = 32/168) (OR = 2.25, 95% CI = 1.23 to 4.08, negative results awareness × age interaction, and = .007).

CONCLUSION

Nearly half of participants did not receive BRCA results presurgery, which limited their ability to make fully informed surgical treatment decisions. This may represent suboptimal care for unaware mutation-positive patients compared with those who were aware presurgery. Women > 50 who test negative are significantly less likely to choose BLM, a costly surgery that does not confer survival advantage, if they are aware of negative results presurgery. These results have important implications for quality of care and costs in the US health system.

摘要

目的

评估新诊断乳腺癌患者的 BRCA 检测和确定性手术治疗的时机和结局。

方法

对 2014 年 3 月至 2015 年 6 月期间,在乳腺癌诊断后 1 年内,由医疗服务提供者为连续全国系列的 3750 名女性中的 1381 名患者进行了患者报告(n=1381)和去识别健康计划(n=2369)数据的分析。

结果

在 1209 名受访者中,54.4%在术前获得了基因检测结果,23.2%在术前检测但在术后获得了结果,22.3%在术后检测。术前知晓突变阳性结果的患者更有可能选择双侧乳房切除术(BLM)(n=32/37),而术后知晓阳性结果的患者(n=14/32)(比值比[OR] = 8.23,95%CI=2.55 至 26.59, <.001)。与术后检测的女性相比,只有术前不知道阴性结果的女性 BLM 率更高(调整后的 OR = 1.70,95%CI = 1.07 至 2.69, =.02)。在 > 50 岁的女性中,术前不知道阴性结果的女性更有可能选择 BLM(n=28/81),而术前知道阴性结果的女性(n=32/168)(OR = 2.25,95%CI = 1.23 至 4.08,阴性结果知晓度×年龄交互作用, =.007)。

结论

近一半的参与者在术前未获得 BRCA 结果,这限制了他们做出充分知情的手术治疗决策的能力。与术前知晓的患者相比,这可能代表对不知情的突变阳性患者的治疗不理想。如果术前知道阴性结果,那么 > 50 岁且检测结果为阴性的女性,选择昂贵且没有生存优势的 BLM 的可能性显著降低。这些结果对美国医疗体系的护理质量和成本具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e58/8202055/43e7a9a996bb/op-17-e226-g001.jpg

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