ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 30 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.Prenatal diagnosis · 2021Pooled it
- The clinical utility of carrier screening.NPJ genomic medicine · 2026Article
- Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.Journal of assisted reproduction and genetics · 2026Article
- Reproductive Genetic Carrier Screening in Romania: A Couple-Based Study of Pathogenic Molecular Variants.International journal of molecular sciences · 2026Article
- Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.Genetics in medicine open · 2026Article
- Article
- Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.NPJ genomic medicine · 2025Article
- Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis.European journal of human genetics : EJHG · 2025Article
- Clinical application of preimplantation genetic testing based on low-coverage next-generation sequencing with linkage analyses in hereditary hearing loss families.Journal of assisted reproduction and genetics · 2025Article
- Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.Journal of translational medicine · 2025Article
- Review
- Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.Human genomics · 2024Article
- Review
- Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds.American journal of human genetics · 2024Review
- Societal implications of expanded universal carrier screening: a scoping review.European journal of human genetics : EJHG · 2023Article
- Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.Journal of assisted reproduction and genetics · 2022Review
- Association of Patient and Site-of-Care Characteristics With Reproductive Carrier Screening Timing in a Large Integrated Health System.JAMA network open · 2022Article
- The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.Journal of personalized medicine · 2022Article
- Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.NPJ genomic medicine · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCarrier screening identifies couples at high risk for conceiving offspring affected with serious heritable conditions. Minimal guidelines recommend offering testing for cystic fibrosis and spinal muscular atrophy, but expanded carrier screening (ECS) assesses hundreds of conditions simultaneously. Although medical societies consider ECS an acceptable practice, the health economics of ECS remain incompletely characterized.
methodsPreconception screening was modeled using a decision tree comparing minimal screening and a 176-condition ECS panel. Carrier rates from >60,000 patients, primarily with private insurance, informed disease incidence estimates, while cost and life-years-lost data were aggregated from the literature and a cost-of-care database. Model robustness was evaluated using one-way and probabilistic sensitivity analyses.
resultsFor every 100,000 pregnancies, 290 are predicted to be affected by ECS-panel conditions, which, on average, increase mortality by 26 undiscounted life-years and individually incur $1,100,000 in lifetime costs. Relative to minimal screening, preconception ECS reduces the affected birth rate and is estimated to be cost-effective (i.e.,<$50,000 incremental cost per life-year), findings robust to perturbation.
conclusionBased on screened patients predominantly with private coverage, preconception ECS is predicted to reduce the burden of Mendelian disease in a cost-effective manner compared with minimal screening. The data and framework herein may facilitate similar assessments in other cohorts.
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