Genetic Registry - Will changing the approach of cascade testing increase uptake of this screening method?: Study

Cascade Testing is the systematic, familial approach to genetic testing where relatives of an individual with a proven hereditary condition are tested for the same genetic mutation. However, uptake rate is less than ideal, owing to gaps in genetic testing awareness and acceptance, on top of systematic barriers. The research aims to transform the approach of cascade testing from a patient-mediated one to clinic-directed approach with the assistance of digitised engagement systems that would help to disseminate information and monitor patients and relatives on their genetic testing journey.

 Cascade screening is a highly efficient and cost-effective means of identifying asymptomatic individuals carrying Pathogenic Variants (PV) /Likely Pathogenic Variants (LPV) associated with an elevated cancer risk compared to the general population.

C-AIM Lead:

Joanne NGEOW Yuen Yie Senior Consultant, Medical Oncology National Cancer Centre Singapore Assoc. Prof. of Genomic Medicine Lee Kong Chian School of Medicine Nanyang Technological University

Related Research Domain: Implementation, Cancer, Human AI Interaction

Keywords: Hereditary cancer, genetic testing, cascade testing, digital tools, public education