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Title: Impact of free cancer predisposition cascade genetic testing on uptake in Singapore
Authors: Courtney, Eliza
Chok, Amanda Kay-Lyn
Ang, Zoe Li Ting
Shaw, Tarryn
Li, Shao-Tzu
Yuen, Jeanette
Ngeow, Joanne
Keywords: Science::Medicine
Issue Date: 2019
Source: Courtney, E., Chok, A. K.-L., Ang, Z. L. T., Shaw, T., Li, S.-T., Yuen, J., & Ngeow, J. (2019). Impact of free cancer predisposition cascade genetic testing on uptake in Singapore. npj Genomic Medicine, 4(1), 22-. doi:10.1038/s41525-019-0096-5
Journal: npj Genomic Medicine
Abstract: 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.
ISSN: 2056-7944
DOI: 10.1038/s41525-019-0096-5
Rights: © 2019 The Author(s). Published in partnership with CEGMR, King Abdulaziz University. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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