Cost-effectiveness of population-wide genomic screening for familial hypercholesterolemia in the United States
Copyright © 2022. Published by Elsevier Inc..
BACKGROUND: Population genomic screening for familial hypercholesterolemia (FH) in unselected individuals can prevent premature cardiovascular disease.
OBJECTIVE: To estimate the clinical and economic outcomes of population-wide FH genomic screening versus no genomic screening.
METHODS: We developed a decision tree plus 10-state Markov model evaluating the identification of patients with an FH variant, statin treatment status, LDL-C levels, MI, and stroke to compare the costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness of population-wide FH genomic screening. FH variant prevalence (0.4%) was estimated from the Geisinger MyCode Community Health Initiative (MyCode). Genomic test costs were assumed to be $200. Age and sex-based estimates of MI, recurrent MI, stroke, and recurrent stroke were obtained from Framingham risk equations. Additional outcomes independently associated with FH variants were derived from a retrospective analysis of 26,025 participants screened for FH. Sensitivity and threshold analyses were conducted to evaluate model assumptions and uncertainty.
RESULTS: FH screening was most effective at younger ages; screening unselected 20-year-olds lead to 111 QALYs gained per 100,000 individuals screened at an incremental cost of $20 M. The incremental cost-effectiveness ratio (ICER) for 20-year-olds was $181,000 per QALY, and there was a 38% probability of cost-effectiveness at a $100,000 per QALY willingness-to-pay threshold. If genomic testing cost falls to $100, the ICER would be $91,000 per QALY.
CONCLUSION: Population FH screening is not cost-effective at current willingness to pay thresholds. However, reducing test costs, testing at younger ages, or including FH within broader multiplex screening panels may improve clinical and economic value.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:16 |
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| Enthalten in: |
Journal of clinical lipidology - 16(2022), 5 vom: 09. Sept., Seite 667-675 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Spencer, Scott J [VerfasserIn] |
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| Links: |
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| Themen: |
Cost-effectiveness analysis |
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| Anmerkungen: |
Date Completed 15.11.2022 Date Revised 15.02.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.jacl.2022.07.014 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 500 | |a Date Revised 15.02.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2022. Published by Elsevier Inc. | ||
| 520 | |a BACKGROUND: Population genomic screening for familial hypercholesterolemia (FH) in unselected individuals can prevent premature cardiovascular disease | ||
| 520 | |a OBJECTIVE: To estimate the clinical and economic outcomes of population-wide FH genomic screening versus no genomic screening | ||
| 520 | |a METHODS: We developed a decision tree plus 10-state Markov model evaluating the identification of patients with an FH variant, statin treatment status, LDL-C levels, MI, and stroke to compare the costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness of population-wide FH genomic screening. FH variant prevalence (0.4%) was estimated from the Geisinger MyCode Community Health Initiative (MyCode). Genomic test costs were assumed to be $200. Age and sex-based estimates of MI, recurrent MI, stroke, and recurrent stroke were obtained from Framingham risk equations. Additional outcomes independently associated with FH variants were derived from a retrospective analysis of 26,025 participants screened for FH. Sensitivity and threshold analyses were conducted to evaluate model assumptions and uncertainty | ||
| 520 | |a RESULTS: FH screening was most effective at younger ages; screening unselected 20-year-olds lead to 111 QALYs gained per 100,000 individuals screened at an incremental cost of $20 M. The incremental cost-effectiveness ratio (ICER) for 20-year-olds was $181,000 per QALY, and there was a 38% probability of cost-effectiveness at a $100,000 per QALY willingness-to-pay threshold. If genomic testing cost falls to $100, the ICER would be $91,000 per QALY | ||
| 520 | |a CONCLUSION: Population FH screening is not cost-effective at current willingness to pay thresholds. However, reducing test costs, testing at younger ages, or including FH within broader multiplex screening panels may improve clinical and economic value | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, N.I.H., Extramural | |
| 650 | 4 | |a Cost-effectiveness analysis | |
| 650 | 4 | |a Cost-utility analysis | |
| 650 | 4 | |a Familial hypercholesterolemia | |
| 650 | 4 | |a Genomic screening | |
| 650 | 4 | |a Population screening | |
| 700 | 1 | |a Jones, Laney K |e verfasserin |4 aut | |
| 700 | 1 | |a Guzauskas, Gregory F |e verfasserin |4 aut | |
| 700 | 1 | |a Hao, Jing |e verfasserin |4 aut | |
| 700 | 1 | |a Williams, Marc S |e verfasserin |4 aut | |
| 700 | 1 | |a Peterson, Josh F |e verfasserin |4 aut | |
| 700 | 1 | |a Veenstra, David L |e verfasserin |4 aut | |
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