ACOG Committee Opinion No. 727: Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer.
ACOG Committee Opinion No. 727: Cascade Testing: Testing Women for Known Hereditary Genetic Mutations Associated With Cancer.
复制标题
DOI：
10.1097/aog.0000000000002457
复制
发表时间：
2018-01-01
影响因子：
7.2
通讯作者：
中科院分区：
文献类型：
--
作者：
“级联检测”是指在已确定具有特定基因突变的个体的血亲中进行遗传咨询和检测。检测方案和其他干预措施可以挽救生命并改善这些家庭成员的健康和生活质量。妇产科医生应该知道谁有资格进行级联试验，并应利用所有可用的资源，以确保级联试验提供和及时发生。尽管对特定人群和个人有明显的健康益处，但妇产科医生应该意识到级联检测的潜在障碍，并应该知道哪些选择可以帮助患者克服这些障碍。然而，这些障碍可以通过医疗保健提供者的意识和参与地方和州的倡议来克服，以改善级联检测的实施。资源（联邦和州机构、专业协会以及宣传和社区团体中的可用资源）对于成功实施级联测试至关重要。委员会的这一意见特别侧重于级联检测以及妇产科医生在临床和公共卫生工作中的作用，以增加对患有遗传性癌症综合征的妇女的识别。
"Cascade testing" refers to the performance of genetic counseling and testing in blood relatives of individuals who have been identified with specific genetic mutations. Testing protocols and other interventions may save lives and improve health and quality of life for these family members. Obstetrician-gynecologists should know who is eligible for cascade testing and should use all available resources to ensure that cascade testing is offered and occurs in a timely manner. Despite the clear health benefits for specific populations and individuals, obstetrician-gynecologists should be aware of the potential barriers to cascade testing and should know which options can help patients overcome those barriers. Such barriers, however, may be overcome with health care provider awareness and participation in local and state initiatives to improve implementation of cascade testing. Resources (available within federal and state agencies, professional societies, and in advocacy and community groups) are critical to the successful implementation of cascade testing. This Committee Opinion focuses specifically on cascade testing and the role of the obstetrician-gynecologist in clinical and public health efforts to increase identification of women with hereditary cancer syndromes.