Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida
Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida
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DOI：
10.1111/cge.12405
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发表时间：
2015-05-01
影响因子：
3.5
通讯作者：
Pal, T.
中科院分区：
文献类型：
--
作者：
Vadaparampil, S. T.;Scherr, C. L.;Pal, T.
遗传性乳腺癌和卵巢癌的遗传咨询和检测现在包括来自多个医疗保健专业、专业和环境的从业者。这项研究调查了非遗传学专业人员(NGP)是否在基因检测之前执行基于指南的患者接收和知情同意。对在佛罗里达州提供BRCA检测服务的NGP(n=386)进行了关于临床实践的调查。在81名受访者中(回应率=22%)，大约一半的人报告：有时在测试前安排一次单独的测试前咨询会议，持续11-30分钟，讨论测试的家庭影响、风险管理选项的好处和局限性，以及讨论潜在的心理影响和保险相关问题。很少有人构建一个三代人的谱系，讨论替代遗传性癌症综合征，或变异结果的意义。这种不遵守以指南为基础的做法可能会对患者及其家人造成直接伤害。无法提供遵循指南的癌症遗传学服务的非政府组织应将重点放在识别和转介高危患者到遗传学专业人员提供的面对面或电话服务上。
Genetic counseling and testing for hereditary breast and ovarian cancer now includes practitioners from multiple healthcare professions, specialties, and settings. This study examined whether non-genetics professionals (NGPs) perform guideline-based patient intake and informed consent before genetic testing. NGPs offering BRCA testing services in Florida (n=386) were surveyed about clinical practices. Among 81 respondents (response rate=22%), approximately half reported: sometimes scheduling a separate session for pre-test counseling lasting 11-30min prior to testing, discussing familial implications of testing, benefits and limitations of risk management options, and discussing the potential psychological impact and insurance-related issues. Few constructed a three-generation pedigree, discussed alternative hereditary cancer syndromes, or the meaning of a variant result. This lack of adherence to guideline-based practice may result in direct harm to patients and their family members. NGPs who are unable to deliver guideline adherent cancer genetics services should focus on identification and referral of at-risk patients to in person or telephone services provided by genetics professionals.