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

• Published in: Npj genomic medicine Vol. 4; no. 1; pp. 1 - 7
• Main Authors: Courtney, Eliza, Chok, Amanda Kay-Lyn, Ting Ang, Zoe Li, Shaw, Tarryn, Li, Shao-Tzu, Yuen, Jeanette, Ngeow, Joanne
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 13.09.2019; Nature Publishing Group
• Subjects: 692/308/2056; 692/700/1538; 692/700/228/2050/1510; 692/700/228/2050/1512; 692/700/459/1748; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Cancer; Gene Function; Gene Therapy; Genetic counseling; Human Genetics; Internal Medicine; Singapore
• ISSN: 2056-7944; 2056-7944
• DOI: 10.1038/s41525-019-0096-5

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.