首页> 外文期刊>European journal of human genetics: EJHG >Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer
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Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer

机译:评估电话遗传咨询促进高级血液癌癌症的种系BRCA1 / 2试验

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摘要

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.
机译:全身医疗保健问题和地理挑战限制了妇女进入BRCA1 / 2测试,以告知使用量身定制的高档浆液卵巢癌。因此,在该群体中的BRCA1 / 2测试是低,并且迫切需要改善的测试途径。本研究旨在确定电话遗传咨询(TGC)的可接受性和可行性,以促进澳大利亚患有高级浆液癌的妇女的聚焦BRCA1 / 2测试。收到TGC的妇女被邀请完成调查检查其服务经验。进行成本分析以将服务与标准,亲自遗传咨询进行比较。一百七名妇女回应(响应率48%); 8有一个影响功能的BRCA1 / 2变体。地理障碍阻碍了妇女在过去访问遗传服务。所有参与者对测试都有积极的态度,并且在测试后悔是最小的。虽然对具有阳性测试结果的测试的影响更大,但总体而言,遗传测试并未对参与者进行额外的心理社会负担。参与者对与基因顾问的电话交互的评估非常令人满意。该服务也被发现具有成本效益。这种电话遗传咨询模式是一种可接受的有效的方法,可降低BRCA1 / 2对卵巢癌妇女进行测试的障碍。

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