Obstet Gynecol. 2018 Jan;131(1):194-195. doi: 10.1097/AOG.0000000000002451.
"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.
“级联检测”是指对已被确定携带特定基因突变的个体的血亲进行遗传咨询和检测。检测方案及其他干预措施可能会挽救这些家庭成员的生命，并改善他们的健康状况和生活质量。妇产科医生应了解哪些人适合进行级联检测，并应利用一切可用资源确保及时提供并开展级联检测。尽管级联检测对特定人群和个体具有明显的健康益处，但妇产科医生应意识到级联检测可能存在的障碍，并应了解哪些选择可以帮助患者克服这些障碍。然而，通过医疗服务提供者的意识以及参与地方和州级改善级联检测实施情况的倡议，这些障碍是可以克服的。资源（可从联邦和州机构、专业协会以及倡导和社区团体获取）对于级联检测的成功实施至关重要。本委员会意见特别关注级联检测以及妇产科医生在临床和公共卫生工作中增加遗传性癌症综合征女性识别方面的作用。
