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. 2019 Sep 13:4:22.
doi: 10.1038/s41525-019-0096-5. eCollection 2019.

Impact of free cancer predisposition cascade genetic testing on uptake in Singapore

Eliza Courtney #  1 , Amanda Kay-Lyn Chok #  1 , Zoe Li Ting Ang  1 , Tarryn Shaw  1 , Shao-Tzu Li  1 , Jeanette Yuen  1 , Joanne Ngeow  1   2
Affiliations

Impact of free cancer predisposition cascade genetic testing on uptake in Singapore

Eliza Courtney et al. NPJ Genom Med. .

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%; χ 2, 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.

Keywords: Genetic counselling; Genetic testing; Genetics research; Health policy; Preventive medicine.

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Conflict of interest statement

Competing interestsJ.N. received funding from AstraZeneca for breast and ovarian cancer research unrelated to the current study. The remaining authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Number of families with FDRs undergoing cascade testing, by proportion of FDRs (n, %). The majority of families (71.0%) had no FDRs undergo cascade testing. Amongst the remaining 29.0% of families, more than two-thirds (67.9%) had ≥40.0% of FDRs undergo cascade testing. FDR first-degree relative
See this image and copyright information in PMC

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