ReviewHuman genetics2020
Expanded carrier screening: counseling and considerations.
Review in Human genetics, 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.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Carrier rates for recessive monogenic diseases in the Chinese Han population: a systematic review.Human genomics · 2026Pooled it
- Carrier screening and genetic counseling in high-consanguinity populations: a narrative review.Journal of community genetics · 2026Review
- Practice patterns for expanded carrier screening among reproductive endocrinology and infertility physicians.Journal of assisted reproduction and genetics · 2026Article
- Integrating preconception carrier screening into public health: lessons learned from a pilot implementation study.Journal of assisted reproduction and genetics · 2026Article
- Expanded Carrier Screening: Current Evidence and Future Directions in the Era of Population Genomics.Genes · 2026Review
- Article
- 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
- Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.BMC pregnancy and childbirth · 2024Article
- Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.Human genomics · 2024Article
- [Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2024Article
- Clinical and genetic architecture of a large cohort with auditory neuropathy.Human genetics · 2024Article
- Utility, benefits, and risks of newborn genetic screening carrier reports for families.Journal of global health · 2024Article
- Article
- Case report: Prenatal diagnosis in the fetus of a couple with both thalassemia and deafness genes.Frontiers in genetics · 2023Article
- Societal implications of expanded universal carrier screening: a scoping review.European journal of human genetics : EJHG · 2023Article
- Use of expanded carrier screening for retrospective diagnosis of two deceased siblings with Van Maldergem syndrome 2: case report.Asian biomedicine : research, reviews and news · 2022Article
- Ethical considerations in gene selection for reproductive carrier screening.Human genetics · 2022Review
- Current Updates on Expanded Carrier Screening: New Insights in the Omics Era.Medicina (Kaunas, Lithuania) · 2022Review
- Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View.Frontiers in neurology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
The primary goal of carrier screening is to identify asymptomatic individuals who carry variants associated with genetic diseases, to inform about the risk of having a child with a genetic disease. Carrier screening can be accomplished through different approaches including ethnicity-based screening, pan-ethnic screening, and expanded carrier screening (ECS), and the decision to pursue carrier screening is voluntary. ECS takes a broad approach by screening for a large number of genetic diseases irrespective of ethnic background, and ideally is performed prior to conception. ECS has many benefits, including that it does not depend on accuracy of reported ancestry, as well as its greater yield of information that can be used for reproductive decision-making. However, there are also many important limitations of ECS to consider, ranging from the yield of unexpected information, uncertainty about the phenotype of a particular disease for which an individual is a carrier, and greater downstream costs associated with further testing and genetic counseling. Detailed genetic counseling both prior to and after ECS is essential in order for patients to understand the breadth of this approach, potential and actual results, and limitations.
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What OpenQuestion holds
Registered trials
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.