Cost-Effectiveness of Familial Hypercholesterolemia Cascade Testing in Thailand: A Comparative Analysis of Exome vs. Long-Read DNA Sequencing
Author(s)
Yue Zhang, MSc1, Parnnaphat Luksameesate, PhD2, Vorasuk Shotelersuk, MD3, Jing Lou, PhD1, Sutinee Soopairin, PharmD2, Chanthawat Patikorn, PhD2, Nattanichcha Kulthanachairojana, PhD4, Pawarut Wongmanovisut, PharmD5, Thanapol Khuharatanachai, MSc2, Hwee-Lin Wee, PhD1, Weerapan Khovidhunkit, MD, PhD6, Poranee Ganokroj, MD7, Chanatjit Cheawsamoot, PhD3, Dimple Butani, MPH8, Yot Teerawattananon, PhD8, Wenjia Chen, PhD1.
1Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore, 2Department of Social and Administrative Pharmacy, Faculty of Pharmaceutical Sciences, Chulalongkorn University, Bangkok, Thailand, 3Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand, 4Division of Social and Administrative Pharmacy, Faculty of Pharmaceutical Sciences, Burapha University, Muang, Chonburi, Thailand, 5Division of National Drug Policy, Food and Drug Administration Thailand, Nonthaburi, Thailand, 6Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand, 7Department of Laboratory Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand, 8Health Intervention and Technology Assessment Program (HITAP), Ministry of Public Health, Nonthaburi, Thailand.
1Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore, 2Department of Social and Administrative Pharmacy, Faculty of Pharmaceutical Sciences, Chulalongkorn University, Bangkok, Thailand, 3Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand, 4Division of Social and Administrative Pharmacy, Faculty of Pharmaceutical Sciences, Burapha University, Muang, Chonburi, Thailand, 5Division of National Drug Policy, Food and Drug Administration Thailand, Nonthaburi, Thailand, 6Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand, 7Department of Laboratory Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand, 8Health Intervention and Technology Assessment Program (HITAP), Ministry of Public Health, Nonthaburi, Thailand.
OBJECTIVES: Evidence on the cost-effectiveness of familial hypercholesterolaemia (FH) cascade screening is limited to high-income countries and mainstream sequencing technologies, such as whole-exome sequencing (WES). The emergence of long-read sequencing (LRS) promises to improve the characterization of genetic FH; however, economic evidence remains scarce due to its early-stage adoption. We conducted novel cost-effectiveness analyses (CEA) on FH cascade screening in Thailand, first using conventional CEA to estimate the value for money of WES for market-access, and then applying early CEA to identify the target product profiles of LRS.
METHODS: We developed hybrid decision tree and Markov models to reflect Thailand clinical practice. Willingness-to-pay threshold was €4,296/QALY (€1 = THB 37.243). Societal perspective and lifetime horizon were adopted. We estimated the cost-effectiveness of WES cascade screening relative to standard of care (SoC). One-way and probabilistic sensitivity analyses were performed. For the newly developing LRS technology, threshold analyses were used to explore the desirable cost packages for LRS to achieve cost-effectiveness over SoC and WES following three criteria. Two-way and scenario analyses addressed uncertainty in LRS accuracy and uptake.
RESULTS: Compared with SoC, WES cascade screening yielded deterministic incremental cost-effectiveness ratio (ICER) of €2,410/QALY, with probabilistic ICER of €2,684/QALY and 70.7% probability of being cost-effective from 2,000 simulations. The results were most sensitive to cascade uptake and cardiovascular risk in untreated FH. For LRS, target costs of €1074/person for probands and €269/person for relatives would achieve cost-effectiveness over SoC. To be cost-effective over WES and to dominate the market, LRS should reduce costs by at least 25% (probands: €806/person, relatives: €201/person) and 40% (probands: €644/person, relatives: €161/person). Higher cost ceilings can be accepted as accuracy and uptake increase.
CONCLUSIONS: WES cascade screening for FH is cost-effective in Thailand. With anticipated substantial reductions in costs, LRS could also be recommended for integration into FH cascade screening paradigm.
METHODS: We developed hybrid decision tree and Markov models to reflect Thailand clinical practice. Willingness-to-pay threshold was €4,296/QALY (€1 = THB 37.243). Societal perspective and lifetime horizon were adopted. We estimated the cost-effectiveness of WES cascade screening relative to standard of care (SoC). One-way and probabilistic sensitivity analyses were performed. For the newly developing LRS technology, threshold analyses were used to explore the desirable cost packages for LRS to achieve cost-effectiveness over SoC and WES following three criteria. Two-way and scenario analyses addressed uncertainty in LRS accuracy and uptake.
RESULTS: Compared with SoC, WES cascade screening yielded deterministic incremental cost-effectiveness ratio (ICER) of €2,410/QALY, with probabilistic ICER of €2,684/QALY and 70.7% probability of being cost-effective from 2,000 simulations. The results were most sensitive to cascade uptake and cardiovascular risk in untreated FH. For LRS, target costs of €1074/person for probands and €269/person for relatives would achieve cost-effectiveness over SoC. To be cost-effective over WES and to dominate the market, LRS should reduce costs by at least 25% (probands: €806/person, relatives: €201/person) and 40% (probands: €644/person, relatives: €161/person). Higher cost ceilings can be accepted as accuracy and uptake increase.
CONCLUSIONS: WES cascade screening for FH is cost-effective in Thailand. With anticipated substantial reductions in costs, LRS could also be recommended for integration into FH cascade screening paradigm.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
EE250
Topic
Economic Evaluation, Health Technology Assessment
Disease
Cardiovascular Disorders (including MI, Stroke, Circulatory), Personalized & Precision Medicine