ELectronic PHenotyping to Enhance Patient Access to Precision Medicine (ELPHA)

Genetic testing is a cornerstone of personalised cancer care, allowing for risk  stratification and early intervention. Despite proven benefits, referral rates remain low in Singapore. We aim to design and develop a clinical decision support system (CDSS) that operationalises international screening guidelines using retrospective electronic health records (EHRs) to flag at-risk patients for genetic testing referral.

 

Identifying patients with hereditary cancer syndromes allows for early detection and risk-reducing efforts, and can potentially inform treatment decisions. Genetic testing for some syndromes have also proven to be cost-effective as it prevents high costs associated with late-stage cancer treatments. Cascade testing uptake in relatives following proband identification also increases the cost-effectiveness.

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

Keywords:
Electronic Health Records (EHR), hereditary cancer, genetic testing, precision medicine