Department of Obstetrics and Gynecology, HCA Florida Brandon, Brandon, FL, USA.
Gynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Fam Cancer. 2024 Jun;23(2):111-120. doi: 10.1007/s10689-024-00373-4. Epub 2024 Mar 26.
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.
胚系基因测序现在处于癌症治疗和预防医学的前沿。级联基因检测，即对高危亲属的检测，具有广阔的前景，因为它为携带癌症相关致病性变异风险显著增加的人群提供了基因检测和潜在的降低风险的策略。然而，由于涉及个体、人际关系、医疗保健社区以及社会/政策领域的障碍，许多亲属并未完成级联检测。我们已经回顾了关于级联检测的已发表研究。我们的目的是评估遗传性癌症综合征级联基因检测的障碍，并探讨减轻这些障碍的策略，以促进级联基因检测的广泛应用。
