Genetic Counseling Department, Bay Path University, East Longmeadow, MA, USA.
Myriad Genetics, Inc, Salt Lake City, UT, USA.
J Genet Couns. 2021 Apr;30(2):342-360. doi: 10.1002/jgc4.1374. Epub 2021 Jan 7.
Cancer risk assessment and genetic counseling for hereditary breast and ovarian cancer (HBOC) are a communication process to inform and prepare patients for genetic test results and the related medical management. An increasing number of healthcare providers are active in the delivery of cancer risk assessment and testing, which can have enormous benefits for enhanced patient care. However, genetics professionals remain key in the multidisciplinary care of at-risk patients and their families, given their training in facilitating patients' understanding of the role of genetics in cancer development, the potential psychological, social, and medical implications associated with cancer risk assessment and genetic testing. A collaborative partnership of non-genetics and genetics experts is the ideal approach to address the growing number of patients at risk for hereditary breast and ovarian cancer. The goal of this practice resource is to provide allied health professionals an understanding of the key components of risk assessment for HBOC as well as the use of risk models and published guidelines for medical management. We also highlight what patient types are appropriate for genetic testing, what are the most appropriate test(s) to consider, and when to refer individuals to a genetics professional. This practice resource is intended to serve as a resource for allied health professionals in determining their approach to delivering comprehensive care for families and individuals facing HBOC. The cancer risk and prevalence figures in this document are based on cisgender women and men; the risks for transgender or non-binary individuals have not been studied and therefore remain poorly understood.
遗传性乳腺癌和卵巢癌 (HBOC) 的癌症风险评估和遗传咨询是一个沟通过程，旨在告知患者并为其准备基因检测结果和相关的医疗管理。越来越多的医疗保健提供者积极参与癌症风险评估和检测，这可以为增强患者护理带来巨大的好处。然而，鉴于遗传学专业人员在促进患者理解遗传学在癌症发展中的作用、与癌症风险评估和基因检测相关的潜在心理、社会和医学影响方面的培训，他们仍然是高危患者及其家属多学科护理的关键。非遗传学和遗传学专家的合作伙伴关系是解决越来越多患有遗传性乳腺癌和卵巢癌风险的患者的理想方法。本实践资源的目标是让辅助医疗专业人员了解 HBOC 风险评估的关键组成部分，以及风险模型和已发布的医学管理指南的使用。我们还强调了哪些患者类型适合进行基因检测，应考虑哪些最适当的检测，以及何时将患者转介给遗传学专家。本实践资源旨在为辅助医疗专业人员提供资源，帮助他们确定为面临 HBOC 的家庭和个人提供全面护理的方法。本文档中的癌症风险和流行率数据基于顺性别女性和男性；跨性别或非二元个体的风险尚未研究，因此仍知之甚少。
