Abstract

Germline genetic sequencing is now at the forefront of cancer treatment and preventative medicine. Cascade genetic testing, or the testing of at-risk relatives, is extremely promising as it offers genetic testing and potentially life-saving risk-reduction strategies to a population exponentially enriched for the risk of carrying a cancer-associated pathogenic variant. However, many relatives do not complete cascade testing due to barriers that span individual, relationship, healthcare community, and societal/policy domains. We have reviewed the published research on cascade testing. Our aim is to evaluate barriers to cascade genetic testing for hereditary cancer syndromes and explore strategies to mitigate these barriers, with the goal of promoting increased uptake of cascade genetic testing.

中文翻译：

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遗传性癌症综合征的级联基因检测：障碍和突破的回顾

摘要

种系基因测序目前处于癌症治疗和预防医学的前沿。级联基因检测或对高危亲属的检测非常有前途，因为它为携带癌症相关致病变异风险呈指数级增加的人群提供基因检测和潜在的挽救生命的风险降低策略。然而，由于跨越个人、关系、医疗保健社区和社会/政策领域的障碍，许多亲属没有完成级联测试。我们回顾了已发表的级联测试研究。我们的目标是评估遗传性癌症综合征级联基因检测的障碍，并探索缓解这些障碍的策略，以促进增加级联基因检测的采用。