Cost Effectiveness of Newborn Genetic Screening for Long QT Syndrome
Author(s)
Christensen K1, Hickingbotham MR2, Yeh JM3, Stout NK2, Lu CY1, Stein S2, Hylind RJ4, Wu AC5
1Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA, 2Harvard Pilgrim Health Care Institute, Boston, MA, USA, 3Boston Children's Hospital and Harvard Medical School, Boston, MA, USA, 4Boston Children's Hospital, Boston, MA, USA, 5Harvard Medical School, Boston Children's Hospital, and Harvard Pilgrim Health Care Institute, Boston, MA, USA
Presentation Documents
OBJECTIVES: Long QT syndrome (LQTS) is a leading cause of sudden cardiac death (SCD) in children. Genetic screening can identify at-risk individuals and facilitate surveillance and treatment, but whether benefits outweigh harms and justify costs is unclear.
METHODS: We used the Precision Medicine Policy and Treatment (PreEMPT) microsimulation model to compare newborn genetic screening for LQTS against usual care in a typical U.S. birth cohort of 3.7 million newborns. The model assumed surveillance of those with a family history of LQTS (usual care only) and those with pathogenic or likely pathogenic variants (screening) until a definitive diagnostic test at age 5 years. Outcomes included numbers of children with undiagnosed and diagnosed LQTS and SCDs, and incremental cost-effectiveness ratios (ICER).
RESULTS: Under usual care, we estimated that through age 20 years, 1,512 children had undiagnosed LQTS (95% uncertainty interval (UI): 542 to 3,321) and 83 with LQTS experienced SCD (95%UI: 75 to 90). Newborn screening was expected to reduce the number of undiagnosed individuals by 901 (95%UI: 320 to 1917) and SCDs by 17 (95%UI: 13 to 21). However, the number of children without LQTS undergoing surveillance increased by 4,079 (95%UI: 2,950 to 5,096). Compared to usual care, newborn genetic screening resulted in an ICER of $105,000 per life-year saved (95%UI, $70,000 to $163,000 per life-year saved). At a willingness-to-pay of $100,000 per life-year saved, 35% of 500 simulations were cost-effective. In scenario analyses that considered more relaxed diagnostic criteria, the estimated ICER increased to $268,000 per life-year saved (95%UI: $169,000 to $546,000).
CONCLUSIONS: Results suggest newborn genetic screening for LQTS would reduce undiagnosed cases and prevent deaths, but would greatly increase the number of children who received surveillance and treatment. The cost-effectiveness of newborn genetic screening for LQTS was borderline at conventional willingness-to-pay thresholds, and depended greatly on diagnostic criteria.
Conference/Value in Health Info
Value in Health, Volume 26, Issue 6, S2 (June 2023)
Acceptance Code
P3
Topic
Economic Evaluation, Medical Technologies, Study Approaches
Topic Subcategory
Cost-comparison, Effectiveness, Utility, Benefit Analysis, Decision Modeling & Simulation, Diagnostics & Imaging
Disease
cardiovascular-disorders-including-mi-stroke-circulatory, Oncology, rare-orphan-diseases