Leveraging Electronic Health Records to Examine the Real-World Rates of Cancer Genetics Referrals in a Singapore Health Care Cluster: Publication

Authors:

Jonathan Jian Hao Soon, Jianglei Wu, Nur Diana Binte Ishak, Wei Qiang See, Michael Dorosan, Jeanette Yuen, Andrea Wan Ling Tan, Marcus Eng Hock Ong, Sean Shao Wei Lam, Hwee-Lin Wee, Jianbang Chiang, Joanne Ngeow

 

Genetic testing can help identify people who have  inherited a high risk of cancer by allowing doctors to detect cancer earlier or even prevent it. However, many people in Singapore who should be referred for genetic testing are not being identified. In this project paper, it describes the research work that goes into building a clinical decision support system (CDSS) that uses hospital electronic health records (EHRs) to automatically flag patients who meet international criteria for genetic testing.

In early testing, the system flagged 20,003 patients, compared to only 3,707 who were actually seen by the Cancer Genetics Service — showing a large number of missed cases.

 

This study found lower referral rates for Lynch syndrome than HBOC, and identified a gender discrepancy, with men with HBOC being less likely to be referred. Efforts to increase referral rates should include raising clinician awareness and electronically identifying suspected cases, especially for male breast cancer and Lynch Syndrome.

 

The paper illustrates the potential of the project to improve cancer detection rate and prevention. The proposed solutions aims to ensure that no eligible patient is missed, creating a more equitable healthcare system. Targeted prevention allows better use of healthcare resources, saving costs at system level.

 

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

 

To cite:
Soon, J. J. H., Wu, J., Ishak, N. D. B., See, W. Q., Dorosan, M., Yuen, J., Tan, A. W. L., Ong, M. E. H., Lam, S. S. W., Wee, H., Chiang, J., & Ngeow, J. (2025). Leveraging electronic health records to examine the Real-World rates of cancer genetics referrals in a Singapore health care cluster. JCO Oncology Practice, 22(1), 91–99. https://doi.org/10.1200/op-24-00858