The cost-effectiveness of genotyping versus sequencing for prenatal cystic fibrosis carrier screening
| Autor: | Alexandria L. Dyer, Aaron B. Caughey, Carmen M. Avram, Brian L Shaffer |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
medicine.medical_specialty Cystic Fibrosis Genotyping Techniques Cost effectiveness Cost-Benefit Analysis Population Pregnancy Prenatal Diagnosis medicine Humans education Genotyping Genetics (clinical) education.field_of_study Obstetrics business.industry Genetic Carrier Screening Infant Newborn Obstetrics and Gynecology Cystic Fibrosis Carrier Screening Cohort Female Quality-Adjusted Life Years Carrier screening business |
| Zdroj: | Prenatal diagnosisREFERENCES. 41(11) |
| ISSN: | 1097-0223 |
| Popis: | OBJECTIVE We investigated the cost-effectiveness of three sequential prenatal cystic fibrosis (CF) carrier screening strategies: genotyping both partners, genotyping one partner then sequencing the second, and sequencing both partners. METHOD A decision-analytic model compared the strategies in a theoretical cohort of four million pregnant couples in the US population and five racial/ethnic sub-populations. Inputs were obtained from literature and varied in sensitivity analysis. Outcomes included cost per quality-adjusted life year (QALY), missed carrier couples, affected newborns, missed prenatal diagnoses, terminations, and procedure-related losses. The cost-effectiveness threshold was $100,000/QALY. RESULTS Sequencing both partners identified 1099 carrier couples that were missed by genotyping both partners, leading to 273 fewer missed prenatal diagnoses, 152 more terminations, and 152 fewer affected newborns. A similar trend was observed in the genotyping followed by sequencing strategy. The incremental cost-effectiveness ratio of genotyping followed by sequencing compared to genotyping both partners was $180,004/QALY and the incremental cost-effectiveness ratio of sequencing both partners compared to genotyping followed by sequencing was $17.6 million/QALY. Sequencing both partners was cost-effective below $339 per test, genotyping/sequencing between $340 and $1837, and genotyping both partners above $1838. Sequencing was not cost-effective among five racial/ethnic sub-populations. CONCLUSION Despite improved outcomes, sequencing for prenatal CF carrier screening was not cost-effective compared to genotyping. The clinical significance of the incremental cost-effectiveness of CF carrier screening is a matter of deliberation for public policy debate. |
| Databáze: | OpenAIRE |
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