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遗传咨询师对于意义未明变异结果以及BRCA检测重新分类的实践与信心。

Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.

作者信息

Scherr C L, Lindor N M, Malo T L, Couch F J, Vadaparampil S T

机构信息

Moffitt Cancer Center, Department of Health Outcomes and Behavior, Tampa, FL, USA.

Mayo Clinic Department of Health Science Research, Scottsdale, AZ, USA.

出版信息

Clin Genet. 2015 Dec;88(6):523-9. doi: 10.1111/cge.12563. Epub 2015 Feb 26.

Abstract

Studies indicate variant of uncertain significance (VUS) results are challenging for genetic counselors and patients, often resulting in negative patient outcomes. Genetic counselors' current practices regarding VUS are unknown. This study utilized a national survey of genetic counselors (n = 932) to examine current practices and confidence related to disclosing BRCA VUS results and reclassification information. For participants (n = 398), descriptive statistics were calculated regarding patient demographic characteristics, practices and confidence, and cross tabulation was used to identify participant's actions when receiving a reclassified VUS. Upon receiving a BRCA VUS report, the majority reported providing patients with information about the frequency with which their VUS was seen and patient ancestry, but a minority discussed DNA banking. Most were confident in their understanding of, and ability to explain, VUS results to patients, but felt less confident about achieving high levels of patient understanding. Upon reclassification, the majority reported calling the patient and mailing the results, but when the reclassification was deleterious, the majority also met with the patient face-to-face. Given the lack of standard professional guidelines about informing patients of initial and reclassified VUS results, this overview provides important insight into genetic counselors' current practices and confidence.

摘要

研究表明,意义未明的变异(VUS)结果对遗传咨询师和患者来说具有挑战性,常常导致负面的患者结局。目前遗传咨询师针对VUS的做法尚不清楚。本研究利用对遗传咨询师(n = 932)的全国性调查,来考察与披露BRCA VUS结果及重新分类信息相关的当前做法和信心。对于参与者(n = 398),计算了关于患者人口统计学特征、做法和信心的描述性统计数据,并使用交叉列表来确定参与者在收到重新分类的VUS时的行动。在收到BRCA VUS报告后,大多数人报告向患者提供了其VUS出现频率及患者血统的信息,但少数人讨论了DNA库。大多数人对自己理解VUS结果并向患者解释的能力有信心,但对让患者达到高度理解则信心不足。在重新分类后,大多数人报告给患者打电话并邮寄结果,但当重新分类是有害的时,大多数人也会与患者进行面对面会面。鉴于缺乏关于向患者告知初始和重新分类的VUS结果的标准专业指南,本概述为遗传咨询师的当前做法和信心提供了重要见解。

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