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Impact of free cancer predisposition cascade genetic testing on uptake in Singapore
npj Genomic Medicine ( IF 4.7 ) Pub Date : 2019-09-13 , DOI: 10.1038/s41525-019-0096-5
Eliza Courtney , Amanda Kay-Lyn Chok , Zoe Li Ting Ang , Tarryn Shaw , Shao-Tzu Li , Jeanette Yuen , Joanne Ngeow

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%; χ2, P< 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.



中文翻译:

免费的癌症易感性级联基因检测对新加坡摄取的影响

癌症易发性的级联测试提供了一种高效且具有成本效益的方法,用于识别罹患癌症风险增加的个体,在这种个体中,有针对性的干预措施通常可以提高生存率。这项研究的目的是确定免费的级联测试对摄取的影响并确定其他相关因素。前瞻性收集了183名被发现具有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。的自由级联测试提供具有吸收(21.6%对6.1%的显著相关联; χ 2P < 0.001)。FDR与先证者之间的关系类型以及FDR年龄也显示出显着的关联,表明年轻一代之间的参与度更高。总体而言,有29.0%(53/183)的家庭至少有1名FDR接受了级联测试。在这些家庭中,有67.9%(36/53)的摄取率至少为40.0%。成本是在新加坡进行级联测试的重要障碍。需要针对人数不足的群体量身定制的干预措施以及支持家庭交流和决策的遗传咨询方法。

更新日期:2019-09-13
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