Courtney Eliza, Chok Amanda Kay-Lyn, Ting Ang Zoe Li, Shaw Tarryn, Li Shao-Tzu, Yuen Jeanette, Ngeow Joanne
1Cancer Genetics Service, Division of Medical Oncology, National Cancer Centre Singapore, Singapore, 169610 Singapore.
2Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, 308232 Singapore.
NPJ Genom Med. 2019 Sep 13;4:22. doi: 10.1038/s41525-019-0096-5. eCollection 2019.
Cascade testing for cancer predisposition offers a highly efficient and cost-effective method for identifying individuals at increased risk for cancer, in whom targeted interventions can often improve survival. The aim of this study was to determine the impact of free cascade testing on uptake and identify other associated factors. Demographic and clinical data were gathered prospectively for 183 probands found to have a pathogenic variant associated with cancer predisposition and their 826 first-degree relatives (FDRs). The provision of free cascade testing was significantly associated with uptake (21.6% vs 6.1%; , 0.001). Relationship type between FDR and proband and FDR age also demonstrated significant associations, suggesting greater engagement amongst younger generations. Overall, 29.0% (53/183) of families had at least 1 FDR who underwent cascade testing. Of these families, 67.9% (36/53) had an uptake rate of at least 40.0%. Cost is a significant barrier to cascade testing uptake in Singapore. Tailored interventions targeting underrepresented groups and genetic counseling approaches supporting family communication and decision-making are necessary.
癌症易感性的级联检测为识别癌症风险增加的个体提供了一种高效且具成本效益的方法，对于这些个体，针对性干预往往可提高生存率。本研究的目的是确定免费级联检测对接受率的影响，并识别其他相关因素。前瞻性收集了183名被发现携带与癌症易感性相关的致病变异的先证者及其826名一级亲属（FDR）的人口统计学和临床数据。提供免费级联检测与接受率显著相关（21.6%对6.1%；P<0.001）。FDR与先证者之间的关系类型以及FDR年龄也显示出显著关联，表明年轻一代参与度更高。总体而言，29.0%（53/183）的家庭至少有1名FDR接受了级联检测。在这些家庭中，67.9%（36/53）的接受率至少为40.0%。成本是新加坡级联检测接受率的一个重大障碍。针对代表性不足群体的定制干预措施以及支持家庭沟通和决策的遗传咨询方法是必要的。
