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提高遗传性乳腺癌和卵巢癌级联检测的机制:将标准化沟通工具引入遗传咨询的影响。

Mechanisms to increase cascade testing in hereditary breast and ovarian cancer: Impact of introducing standardized communication aids into genetic counseling.

机构信息

Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, University of Virginia, Charlottesville, Virginia, USA.

Kaiser San Francisco, 2238 Geary Blvd, San Francisco, CA, 94114, 415-833-4199, USA.

出版信息

J Obstet Gynaecol Res. 2020 Sep;46(9):1835-1841. doi: 10.1111/jog.14366. Epub 2020 Jul 12.

DOI:10.1111/jog.14366
PMID:32656916
Abstract

AIM

Precancer identification of women with hereditary breast and ovarian cancer (HBOC) could prevent 20% of these ovarian cancers. The objective was to determine whether standardized Facing Our Risk of Cancer Empowered (FORCE) materials are acceptable, improve knowledge of HBOC and increase disclosure to family members.

METHODS

A prospective cohort of women with breast or ovarian cancer was identified prior to genetic testing. Subjects completed a baseline knowledge survey and were provided three communication aids. Knowledge, acceptability and communication to family members were reassessed at 6 months and compared to a retrospective cohort who had undergone genetic testing for breast or ovarian cancer prior to the intervention. The primary outcome was increase in HBOC knowledge, requiring 20 pre- and postknowledge scores to detect a 10% difference.

RESULTS

Forty women were enrolled. The median age at cancer diagnosis was 50 years and 55% had a family history of breast or ovarian cancer. Though subjects found the resources acceptable, knowledge scores did not improve after their use. Disclosure rates were of no different between cohorts (83% preintervention vs 77% postintervention, P = 0.26) though there was an increase in deleterious mutation carriers, 0% (0/6) preintervention vs 100% (22/22) postintervention. Rates of subsequent testing in relatives were low in both preintervention and postintervention cohorts (0% vs 4.5%).

CONCLUSION

Inclusion of standardized communication tools is acceptable to patients. Knowledge did not improve after their use. In deleterious mutation carriers, disclosure rates increased postintervention.

摘要

目的

对遗传性乳腺癌和卵巢癌(HBOC)女性进行癌前识别可预防 20%的卵巢癌。本研究旨在确定标准化的“直面癌症风险增强版(FORCE)”材料是否可以被接受,能否提高对 HBOC 的认识并增加对家庭成员的披露。

方法

在进行基因检测之前,确定了患有乳腺癌或卵巢癌的前瞻性队列。研究对象完成了基线知识调查,并提供了三种沟通辅助工具。在 6 个月时重新评估了知识、可接受性和与家庭成员的沟通情况,并与接受过乳腺癌或卵巢癌基因检测的回顾性队列进行了比较。主要结局是增加 HBOC 知识,需要 20 个预和后知识评分来检测 10%的差异。

结果

共纳入 40 名女性。癌症诊断时的中位年龄为 50 岁,55%有乳腺癌或卵巢癌家族史。尽管研究对象认为这些资源是可以接受的,但使用后知识评分并没有提高。两个队列的披露率没有差异(干预前为 83%,干预后为 77%,P=0.26),但有害突变携带者的比例有所增加,干预前为 0%(0/6),干预后为 100%(22/22)。两个队列的亲属后续检测率均较低(干预前为 0%,干预后为 4.5%)。

结论

纳入标准化沟通工具可被患者接受。使用后知识没有提高。在有害突变携带者中,干预后披露率增加。

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