ArticlePrenatal diagnosis2020
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel.
Article in Prenatal diagnosis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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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
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review.European journal of human genetics : EJHG · 2023Pooled it
- Considering seriousness in preconception carrier screening: a framework to support policy deliberation.Journal of community genetics · 2026Review
- Obtaining a Diagnostic Yield via Scan findings prior to the introduction of SEquencing retrospectivelY (ODYSSEY): a cohort study.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Article
- Navigating the use of preimplantation genetic testing: a retrospective analysis of 15 years of the Dutch National Indications Committee for PGT.European journal of human genetics : EJHG · 2026Article
- Article
- Towards a patient-centred classification of genetic disease severity.European journal of human genetics : EJHG · 2025Article
- A dataset of estimated heterozygous individual and carrier couple frequencies for pan-ancestry carrier screening.Data in brief · 2025Article
- Severity in the genomic age: the significance of lived experience to understandings of severity.European journal of human genetics : EJHG · 2025Article
- Unpacking the notion of "serious" genetic conditions: towards implementation in reproductive decision-making?European journal of human genetics : EJHG · 2025Review
- Research needs for birth defect prevention and control in China in the genomic screening era.BMJ (Clinical research ed.) · 2024Article
- Populational pan-ethnic screening panel enabled by deep whole genome sequencing.NPJ genomic medicine · 2023Article
- 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
- Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening.European journal of human genetics : EJHG · 2023Article
- Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.Prenatal diagnosis · 2022Article
- Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis.American journal of obstetrics & gynecology MFM · 2022Article
- Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022Review
- Views of patients and parents of children with genetic disorders on population-based expanded carrier screening.Prenatal diagnosis · 2022Article
- Ethical considerations in gene selection for reproductive carrier screening.Human genetics · 2022Review
- Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Evaluating the efficacy of three carrier screening workflows designed to identify at-risk carrier couples.Prenatal diagnosis · 2021Article
Corrections and comments
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDisease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).
methodsEight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. MDs and GCs then determined by group consensus how each of these disease traits mapped to ACOG severity criteria, enabling determination of the number of ACOG severity criteria met by each gene.
resultsUpon consensus GC and MD application of the severity algorithm, 68 (39%) genes were classified as profound, 71 (40%) as severe, 36 (20%) as moderate, and one (1%) as mild. After mapping of disease traits to ACOG severity criteria, 170 out of 176 genes (96.6%) were found to meet at least one of the four criteria, 129 genes (73.3%) met at least two, 73 genes (41.5%) met at least three, and 17 genes (9.7%) met all four.
conclusionThis study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.
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