ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 41 citations in OpenAlex.
- Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.Applied health economics and health policy · 2025Pooled it
- The Cost Effectiveness of Genomic Medicine in Cancer Control: A Systematic Literature Review.Applied health economics and health policy · 2025Pooled it
- Principles of Genomic Newborn Screening Programs: A Systematic Review.JAMA network open · 2021Pooled it
- Population-based genomic detection of childhood cancer predisposition using newborn dried blood spots.Nature communications · 2026Article
- Trends in Childhood and Adolescent Cancer Incidence Rates in the United States between 2001 and 2022.Cancer discovery · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Effect of Multimodal Interventions on Pain, Stress, and Neurodevelopmental Outcomes in Neonates With Malignant and Benign Tumors: Protocol for a Systematic Review.JMIR research protocols · 2026Article
- The Unique Utility of Newborn Dried Blood Spots for Driving Discovery in Childhood Cancer Research.Clinical chemistry · 2025Review
- Genetic Screening for Hereditary Transthyretin Amyloidosis in the Population of Cammarata and San Giovanni Gemini Through Red Flags and Registry Archives.Brain sciences · 2025Article
- The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.American journal of human genetics · 2024Article
- Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.Cancers · 2024Review
- Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates.NPJ genomic medicine · 2024Article
- Newborn Screening for Li-Fraumeni Syndrome: Patient Perspectives.Research square · 2024Article
- Utility, benefits, and risks of newborn genetic screening carrier reports for families.Journal of global health · 2024Article
- Genomic newborn screening for rare diseases.Nature reviews. Genetics · 2023Review
- Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?European journal of human genetics : EJHG · 2023Article
- Benefits, harms, and costs of newborn genetic screening for hypertrophic cardiomyopathy: Estimates from the PreEMPT model.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.Genome medicine · 2023Article
- Article
- Precision medicine via the integration of phenotype-genotype information in neonatal genome project.Fundamental research · 2022Review
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
purposeGenetic testing for pediatric cancer predisposition syndromes (CPS) could augment newborn screening programs, but with uncertain benefits and costs.
methodsWe developed a simulation model to evaluate universal screening for a CPS panel. Cohorts of US newborns were simulated under universal screening versus usual care. Using data from clinical studies, ClinVar, and gnomAD, the presence of pathogenic/likely pathogenic (P/LP) variants in RET, RB1, TP53, DICER1, SUFU, PTCH1, SMARCB1, WT1, APC, ALK, and PHOX2B were assigned at birth. Newborns with identified variants underwent guideline surveillance. Survival benefit was modeled via reductions in advanced disease, cancer deaths, and treatment-related late mortality, assuming 100% adherence.
resultsAmong 3.7 million newborns, under usual care, 1,803 developed a CPS malignancy before age 20. With universal screening, 13.3% were identified at birth as at-risk due to P/LP variant detection and underwent surveillance, resulting in a 53.5% decrease in cancer deaths in P/LP heterozygotes and a 7.8% decrease among the entire cohort before age 20. Given a test cost of $55, universal screening cost $244,860 per life-year gained; with a $20 test, the cost fell to $99,430 per life-year gained.
conclusionPopulation-based genetic testing of newborns may reduce mortality associated with pediatric cancers and could be cost-effective as sequencing costs decline.
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