Suppr超能文献

先前 BRCA1/2 检测阴性患者中应用癌症多基因panel 检测的纵向结果。

Longitudinal outcomes with cancer multigene panel testing in previously tested BRCA1/2 negative patients.

机构信息

Department of Medicine, Division of Hematology-Oncology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

出版信息

Clin Genet. 2020 Apr;97(4):601-609. doi: 10.1111/cge.13716.

Abstract

Although multigene panel testing (MGPT) is increasingly utilized in clinical practice, there remain limited data on patient-reported outcomes. BRCA 1/2 negative patients were contacted and offered MGPT. Patients completed pre- and posttest counseling, and surveys assessing cognitive, affective and behavioral outcomes at baseline, postdisclosure and 6 and 12 months. Of 317 eligible BRCA1/2 negative patients who discussed the study with research staff, 249 (79%) enrolled. Decliners were more likely to be older, non-White, and recruited by mail or email. Ninety-five percent of enrolled patients proceeded with MGPT. There were no significant changes in anxiety, depression, cancer specific distress or uncertainty postdisclosure. There were significant but small increases in knowledge, cancer-specific distress and depression at 6-12 months. Uncertainty declined over time. Those with a VUS had significant decreases in uncertainty but also small increases in cancer specific distress at 6 and 12 months. Among those with a positive result, medical management recommendations changed in 26% of cases and 2.6% of all tested. Most BRCA1/2 negative patients have favorable psychosocial outcomes after receipt of MGPT results, although small increases in depression and cancer-specific worry may exist and may vary by result. Medical management changed in few patients.

摘要

虽然多基因面板检测(MGPT)在临床实践中越来越多地被使用,但关于患者报告结果的数据仍然有限。BRCA1/2 阴性患者被联系并提供 MGPT。患者在测试前和测试后完成咨询,并在基线、披露后以及 6 个月和 12 个月时完成评估认知、情感和行为结果的调查。在与研究人员讨论这项研究的 317 名符合条件的 BRCA1/2 阴性患者中,有 249 名(79%)入组。拒绝者更有可能年龄较大、不是白人,并且通过邮件或电子邮件招募。95%的入组患者进行了 MGPT。披露后焦虑、抑郁、癌症特定困扰或不确定性没有显著变化。6-12 个月时知识、癌症特定困扰和抑郁有显著但较小的增加。不确定性随着时间的推移而下降。那些有 VUS 的患者在不确定性方面有显著下降,但在 6 个月和 12 个月时癌症特定困扰也有较小的增加。在阳性结果的患者中,26%的病例和所有测试的 2.6%的病例的医疗管理建议发生了变化。大多数 BRCA1/2 阴性患者在接受 MGPT 结果后有良好的心理社会结果,尽管可能存在较小的抑郁和癌症特定担忧增加,并且可能因结果而异。很少有患者的医疗管理发生变化。

相似文献

10
Beyond BRCA: A Case Series Examining the Advent of Multigene Panel Testing.超越BRCA:一个多基因检测出现的病例系列研究
Clin Breast Cancer. 2018 Aug;18(4):e431-e439. doi: 10.1016/j.clbc.2018.03.015. Epub 2018 Apr 6.

引用本文的文献

本文引用的文献

9
A Danish national effort of BRCA1/2 variant classification.丹麦对BRCA1/2基因变异分类的全国性工作。
Acta Oncol. 2018 Jan;57(1):159-162. doi: 10.1080/0284186X.2017.1400693. Epub 2017 Nov 23.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验