[AVBC 2025] Cost-Effectiveness of Genetic Testing for Alport Syndrome with Cascade Testing vs. Usual Care
Care Process & Redesign
Appropriate & Value-based Care Conference
National Healthcare Group
SingHealth
5 December 2025
To evaluate the cost-effectiveness of genetic testing with cascade testing vs. Genetic testing with cascade testing is a cost-effective strategy for early diagnosis of Alport Syndrome in Singapore.
Year Submitted: 2025
Published Date: 05 December 2025
Tags: Care Process ＆ Redesign, Product Evaluation, Cost Effectiveness
About this Content
Aims
To evaluate the cost-effectiveness of genetic testing with cascade testing vs. usual care in Singapore.
Background
Alport Syndrome is a rare genetic kidney disorder that can lead to renal failure, hearing loss, and ocular problems. Early detection is critical, but testing is not routine. Singapore has a high ESRD burden and needs to pursue a cost-effective strategy.
Methods
Alport Syndrome is a rare genetic kidney disorder that can lead to renal failure, hearing loss, and ocular problems. Early detection is critical, but testing is not routine. Singapore has a high ESRD burden and needs to pursue a cost-effective strategy.
Results
Genetic testing + cascade resulted in earlier diagnosis and an increase of 0.01 QALYs per proband. The ICER was SGD 4,063 per QALY gained, well below the SGD 50k-75k threshold. Key drivers included biopsy cost and genetic test sensitivity.
Conclusion
Genetic testing with cascade testing is a cost-effective strategy for early diagnosis of Alport Syndrome in Singapore.
Lessons Learnt
The study highlights the importance of cost-effectiveness in genetic testing strategies and identifies key cost drivers.
Keywords
Alport Syndrome, Genetic Testing, Cost-Effectiveness, Cascade Testing, Nephrology
Innovators' Details
Innovators' Details
Healthcare Cluster(s) | SingHealth, National Healthcare Group |
Organization(s) Involved | Duke-NUS, Singapore General Hospital, Tan Tock Seng Hospital, KK Womens and Childrens Hospital |
Platform(s) | Appropriate & Value-based Care Conference |
Healthcare Professional Group(s) | Medical |
Applicable Specialty or Discipline | Nephrology, General Research |
Project Lead(s) | David Bruce Matchar |
Project Member(s) | Gandhi Naline |
Connect with this contributor!
David Bruce Matchar - david.matchar@duke-nus.edu.sg