ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Cost-effectiveness of primary care-based risk assessment and hereditary cancer genetic testing.BMC primary care · 2025Trial
- A paradigm shift in genetic predisposition to colorectal cancer: the impact of germline multigene panel testing on diagnosis and management.International journal of clinical oncology · 2026Review
- Secondary findings after multi-gene panel testing in 7,388 patients with suspected cancer predisposition syndrome.Scientific reports · 2026Article
- Article
- Canadian consensus for the assessment and testing of Lynch syndrome.Journal of medical genetics · 2025Article
- Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Combined population genomic screening for three high-risk conditions in Australia: a modelling study.EClinicalMedicine · 2023Article
- Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan.Hereditary cancer in clinical practice · 2023Article
- Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.Annals of internal medicine · 2023Article
- Article
- A Focused Clinical Review of Lynch Syndrome.Cancer management and research · 2023Review
- Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.JAMA network open · 2022Article
- From the patient to the population: Use of genomics for population screening.Frontiers in genetics · 2022Article
- A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
purposeGenomic screening for Lynch syndrome (LS) could prevent colorectal cancer (CRC) by identifying high-risk patients and instituting intensive CRC screening. We estimated the cost-effectiveness of a population-wide LS genomic screening vs family history-based screening alone in an unselected US population.
methodsWe developed a decision-analytic Markov model including health states for precancer, stage-specific CRC, and death and assumed an inexpensive test cost of $200. We conducted sensitivity and threshold analyses to evaluate model uncertainty.
resultsScreening unselected 30-year-olds for LS variants resulted in 48 (95% credible range [CR] = 35-63) fewer overall CRC cases per 100,000 screened individuals, leading to 187 quality-adjusted life-years (QALYs; 95% CR = 123-260) gained at an incremental cost of $24.6 million (95% CR = $20.3 million-$29.1 million). The incremental cost-effectiveness ratio was $132,200, with an 8% and 71% probability of being cost-effective at $100,000 and $150,000 per QALY willingness-to-pay thresholds, respectively.
conclusionPopulation LS screening may be cost-effective in younger patient populations under a $150,000 willingness-to-pay per QALY threshold and with a relatively inexpensive test cost. Further reductions in testing costs and/or the inclusion of LS testing within a broader multiplex screening panel are needed for screening to become highly cost-effective.
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