Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis
BACKGROUND: The cost-effectiveness of screening the U.S. population for Centers for Disease Control and Prevention (CDC) Tier 1 genomic conditions is unknown.
OBJECTIVE: To estimate the cost-effectiveness of simultaneous genomic screening for Lynch syndrome (LS), hereditary breast and ovarian cancer syndrome (HBOC), and familial hypercholesterolemia (FH).
DESIGN: Decision analytic Markov model.
DATA SOURCES: Published literature.
TARGET POPULATION: Separate age-based cohorts (ages 20 to 60 years at time of screening) of racially and ethnically representative U.S. adults.
TIME HORIZON: Lifetime.
PERSPECTIVE: U.S. health care payer.
INTERVENTION: Population genomic screening using clinical sequencing with a restricted panel of high-evidence genes, cascade testing of first-degree relatives, and recommended preventive interventions for identified probands.
OUTCOME MEASURES: Incident breast, ovarian, and colorectal cancer cases; incident cardiovascular events; quality-adjusted survival; and costs.
RESULTS OF BASE-CASE ANALYSIS: Screening 100 000 unselected 30-year-olds resulted in 101 (95% uncertainty interval [UI], 77 to 127) fewer overall cancer cases and 15 (95% UI, 4 to 28) fewer cardiovascular events and an increase of 495 quality-adjusted life-years (QALYs) (95% UI, 401 to 757) at an incremental cost of $33.9 million (95% UI, $27.0 million to $41.1 million). The incremental cost-effectiveness ratio was $68 600 per QALY gained (95% UI, $41 800 to $88 900).
RESULTS OF SENSITIVITY ANALYSIS: Screening 30-, 40-, and 50-year-old cohorts was cost-effective in 99%, 88%, and 19% of probabilistic simulations, respectively, at a $100 000-per-QALY threshold. The test costs at which screening 30-, 40-, and 50-year-olds reached the $100 000-per-QALY threshold were $413, $290, and $166, respectively. Variant prevalence and adherence to preventive interventions were also highly influential parameters.
LIMITATIONS: Population averages for model inputs, which were derived predominantly from European populations, vary across ancestries and health care environments.
CONCLUSION: Population genomic screening with a restricted panel of high-evidence genes associated with 3 CDC Tier 1 conditions is likely to be cost-effective in U.S. adults younger than 40 years if the testing cost is relatively low and probands have access to preventive interventions.
PRIMARY FUNDING SOURCE: National Human Genome Research Institute.
| Errataetall: |
CommentIn: Ann Intern Med. 2023 Nov;176(11):eL230321. - PMID 37983802 |
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| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:176 |
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| Enthalten in: |
Annals of internal medicine - 176(2023), 5 vom: 04. Mai, Seite 585-595 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Guzauskas, Gregory F [VerfasserIn] |
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| Anmerkungen: |
Date Completed 17.05.2023 Date Revised 18.12.2023 published: Print-Electronic CommentIn: Ann Intern Med. 2023 Nov;176(11):eL230321. - PMID 37983802 Citation Status MEDLINE |
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| doi: |
10.7326/M22-0846 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 100 | 1 | |a Guzauskas, Gregory F |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Population Genomic Screening for Three Common Hereditary Conditions |b A Cost-Effectiveness Analysis |
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| 500 | |a Date Completed 17.05.2023 | ||
| 500 | |a Date Revised 18.12.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a CommentIn: Ann Intern Med. 2023 Nov;176(11):eL230321. - PMID 37983802 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a BACKGROUND: The cost-effectiveness of screening the U.S. population for Centers for Disease Control and Prevention (CDC) Tier 1 genomic conditions is unknown | ||
| 520 | |a OBJECTIVE: To estimate the cost-effectiveness of simultaneous genomic screening for Lynch syndrome (LS), hereditary breast and ovarian cancer syndrome (HBOC), and familial hypercholesterolemia (FH) | ||
| 520 | |a DESIGN: Decision analytic Markov model | ||
| 520 | |a DATA SOURCES: Published literature | ||
| 520 | |a TARGET POPULATION: Separate age-based cohorts (ages 20 to 60 years at time of screening) of racially and ethnically representative U.S. adults | ||
| 520 | |a TIME HORIZON: Lifetime | ||
| 520 | |a PERSPECTIVE: U.S. health care payer | ||
| 520 | |a INTERVENTION: Population genomic screening using clinical sequencing with a restricted panel of high-evidence genes, cascade testing of first-degree relatives, and recommended preventive interventions for identified probands | ||
| 520 | |a OUTCOME MEASURES: Incident breast, ovarian, and colorectal cancer cases; incident cardiovascular events; quality-adjusted survival; and costs | ||
| 520 | |a RESULTS OF BASE-CASE ANALYSIS: Screening 100 000 unselected 30-year-olds resulted in 101 (95% uncertainty interval [UI], 77 to 127) fewer overall cancer cases and 15 (95% UI, 4 to 28) fewer cardiovascular events and an increase of 495 quality-adjusted life-years (QALYs) (95% UI, 401 to 757) at an incremental cost of $33.9 million (95% UI, $27.0 million to $41.1 million). The incremental cost-effectiveness ratio was $68 600 per QALY gained (95% UI, $41 800 to $88 900) | ||
| 520 | |a RESULTS OF SENSITIVITY ANALYSIS: Screening 30-, 40-, and 50-year-old cohorts was cost-effective in 99%, 88%, and 19% of probabilistic simulations, respectively, at a $100 000-per-QALY threshold. The test costs at which screening 30-, 40-, and 50-year-olds reached the $100 000-per-QALY threshold were $413, $290, and $166, respectively. Variant prevalence and adherence to preventive interventions were also highly influential parameters | ||
| 520 | |a LIMITATIONS: Population averages for model inputs, which were derived predominantly from European populations, vary across ancestries and health care environments | ||
| 520 | |a CONCLUSION: Population genomic screening with a restricted panel of high-evidence genes associated with 3 CDC Tier 1 conditions is likely to be cost-effective in U.S. adults younger than 40 years if the testing cost is relatively low and probands have access to preventive interventions | ||
| 520 | |a PRIMARY FUNDING SOURCE: National Human Genome Research Institute | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, N.I.H., Extramural | |
| 700 | 1 | |a Garbett, Shawn |e verfasserin |4 aut | |
| 700 | 1 | |a Zhou, Zilu |e verfasserin |4 aut | |
| 700 | 1 | |a Schildcrout, Jonathan S |e verfasserin |4 aut | |
| 700 | 1 | |a Graves, John A |e verfasserin |4 aut | |
| 700 | 1 | |a Williams, Marc S |e verfasserin |4 aut | |
| 700 | 1 | |a Hao, Jing |e verfasserin |4 aut | |
| 700 | 1 | |a Jones, Laney K |e verfasserin |4 aut | |
| 700 | 1 | |a Spencer, Scott J |e verfasserin |4 aut | |
| 700 | 1 | |a Jiang, Shangqing |e verfasserin |4 aut | |
| 700 | 1 | |a Veenstra, David L |e verfasserin |4 aut | |
| 700 | 1 | |a Peterson, Josh F |e verfasserin |4 aut | |
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