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评估电话遗传咨询以促进高级别浆液性卵巢癌女性进行种系 BRCA1/2 检测。

Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer.

机构信息

Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC, Australia.

出版信息

Eur J Hum Genet. 2019 Aug;27(8):1186-1196. doi: 10.1038/s41431-019-0390-9. Epub 2019 Apr 8.

DOI:10.1038/s41431-019-0390-9
PMID:30962500
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6777607/
Abstract

Systemic healthcare issues and geographical challenges restrict women's access to BRCA1/2 testing to inform the use of tailored treatments for high-grade serous ovarian cancer. Consequently, BRCA1/2 testing in this population is low and improved testing pathways are urgently needed. This study aimed to determine the acceptability and feasibility of telephone genetic counselling (TGC) to facilitate treatment-focused BRCA1/2 testing in Australia for women with high-grade serous ovarian cancer. Women who received TGC were invited to complete a survey examining their experiences of the service. A cost analysis was conducted to compare the service to standard, in-person genetic counselling. One hundred and seven women responded (48% response rate); 8 had a BRCA1/2 variant affecting function. Geographical barriers prevented women from accessing genetic services in the past. All participants had a positive attitude towards testing, and regret following testing was minimal. While the impact of testing was greater for those with a positive test result, overall, genetic testing did not put the additional psychosocial burden on the participants. Participant's evaluations of the telephone interactions with the genetic counsellors were highly satisfactory. The service was also found to be cost-effective. This model of telephone genetic counselling was an acceptable and effective way to reduce barriers to BRCA1/2 testing for women with ovarian cancer.

摘要

系统性医疗问题和地理挑战限制了女性获得 BRCA1/2 检测的机会,无法为高级别浆液性卵巢癌提供针对性治疗。因此,该人群中的 BRCA1/2 检测率较低,迫切需要改进检测途径。本研究旨在确定电话遗传咨询(TGC)在澳大利亚为患有高级别浆液性卵巢癌的女性提供以治疗为重点的 BRCA1/2 检测的可接受性和可行性。接受 TGC 的女性被邀请完成一项调查,以检查她们对该服务的体验。进行了成本分析,以比较该服务与标准的面对面遗传咨询。107 名女性做出回应(48%的回应率);8 名女性携带影响功能的 BRCA1/2 变体。地理障碍过去曾阻碍女性获得遗传服务。所有参与者对检测持积极态度,检测后的后悔情绪很少。虽然检测结果阳性的参与者受检测影响更大,但总体而言,遗传检测并未给参与者带来额外的心理社会负担。参与者对与遗传咨询师电话互动的评价非常满意。该服务也具有成本效益。这种电话遗传咨询模式是减少卵巢癌女性接受 BRCA1/2 检测障碍的一种可接受且有效的方法。

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Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up.遗传性乳腺癌和卵巢癌电话咨询与面对面遗传咨询的随机非劣效性试验:12个月随访
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