ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
A data-driven evaluation of the size and content of expanded carrier screening panels.
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. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
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- Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes.HGG advances · 2026Article
- Reproductive carrier screening among Chinese couples experiencing unexplained recurrent pregnancy loss.BMC pregnancy and childbirth · 2026Article
- Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.Genome medicine · 2026Article
- Expanding carrier screening: beyond the genes, to include underrepresented ancestries.NPJ genomic medicine · 2025Article
- Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.Journal of medical genetics · 2025Article
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.Scientific reports · 2025Article
- An overview of current prenatal genetic screening and diagnosis guidelines.Pregnancy (Hoboken, N.J.) · 2025Review
- Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.Scientific reports · 2025Article
- Secondary Findings from Exome Sequencing of a Greek Cohort.Current issues in molecular biology · 2025Article
- Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation.Journal of assisted reproduction and genetics · 2025Article
- Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.Frontiers in genetics · 2025Article
- Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.European journal of human genetics : EJHG · 2025Article
- Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds.American journal of human genetics · 2024Review
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Before Is Better: Innovative Multidisciplinary Preconception Care in Different Clinical Contexts.Journal of clinical medicine · 2023Review
- Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.Journal of assisted reproduction and genetics · 2023Article
- Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.Cell genomics · 2023Article
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Authors and funding
4 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe American College of Obstetricians and Gynecologists (ACOG) proposed seven criteria for expanded carrier screening (ECS) panel design. To ensure that screening for a condition is sufficiently sensitive to identify carriers and reduce residual risk of noncarriers, one criterion requires a per-condition carrier rate greater than 1 in 100. However, it is unestablished whether this threshold corresponds with a loss in clinical detection. The impact of the proposed panel design criteria on at-risk couple detection warrants data-driven evaluation.
methodsCarrier rates and at-risk couple rates were calculated in 56,281 patients who underwent a 176-condition ECS and were evaluated for panels satisfying various criteria. Condition-specific clinical detection rates were estimated via simulation.
resultsDifferent interpretations of the 1-in-100 criterion have variable impact: a compliant panel would include between 3 and 38 conditions, identify 11-81% fewer at-risk couples, and detect 36-79% fewer carriers than a 176-condition panel. If the carrier rate threshold must be exceeded in all ethnicities, ECS panels would lack prevalent conditions like cystic fibrosis. Simulations suggest that the clinical detection rate remains >84% for conditions with carrier rates as low as 1 in 1000.
conclusionThe 1-in-100 criterion limits at-risk couple detection and should be reconsidered.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.