ReviewGenetics in medicine : official journal of the American College of Medical Genetics2019
The evolving landscape of expanded carrier screening: challenges and opportunities.
Review 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 73 papers, 2 of them syntheses 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
73 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review.European journal of human genetics : EJHG · 2023Pooled 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
- Video education about genetic privacy and patient perspectives about sharing prenatal genetic data: a randomized trial.American journal of obstetrics and gynecology · 2022Trial
- Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes.HGG advances · 2026Article
- Knowledge, acceptance, and willingness to pay for expanded carrier screening among obstetric patients in China: Implications for genetic counseling practice.Journal of genetic counseling · 2026Article
- Practice patterns for expanded carrier screening among reproductive endocrinology and infertility physicians.Journal of assisted reproduction and genetics · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.Journal of translational medicine · 2026Article
- Stratified obstetric management for heterogeneous rare diseases: a precision medicine framework based on four genetic archetypes.Frontiers in medicine · 2026Review
- Expanding carrier screening: beyond the genes, to include underrepresented ancestries.NPJ genomic medicine · 2025Article
- Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses.Human reproduction (Oxford, England) · 2025Article
- Situating genetic counseling research: The role of the sociopolitical climate in research production and interpretation.Journal of genetic counseling · 2025Article
- Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.Journal of medical genetics · 2025Article
- How women respond to uncertainty in the context of genetic screening: A qualitative analysis framed by the uncertainty tolerance model.Journal of genetic counseling · 2025Article
- Laboratory and clinical genetic Counselor's perspectives on the reporting of personal health risks on carrier screening reports.Journal of genetic counseling · 2025Article
- Clinical experience of the expanded carrier screening for recessive genetic diseases in a large cohort study in Southern central China.Scientific reports · 2025Article
- The effect of media aids in genetic carrier screening education among patients with infertility.F&S reports · 2025Article
- The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.Clinical genetics · 2025Article
- Women's preferences for genetic screening in routine care: A qualitative study.Patient education and counseling · 2025Article
- Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.BMC pregnancy and childbirth · 2024Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Carrier screening allows individuals to learn their chance of passing on an autosomal or X-linked condition to their offspring. Initially introduced as single-disease, ancestry-based screening, technological advances now allow for the possibility of multi-disease, pan-ethnic carrier screening, which we refer to as "expanded carrier screening." There are numerous potential benefits to expanded carrier screening, including maximizing the opportunity for couples to make autonomous reproductive decisions, and efficiency and marginal additional costs of including more conditions if the test is already being offered. While numerous laboratories currently offer expanded carrier screening services, it is not yet commonly used in clinical practice, and there is a lack of consensus among experts about the service, including whether this should be offered to individuals and couples, whether this should be offered preconception or prenatally, and what conditions to include in screening programs. Challenges for expanded carrier screening programs include a lack of demand from the public, low prioritization by health systems, the potential for pressure to undergo screening, the possibility of disability-based discrimination, needed adaptations to pre- and post-test counseling, technical limitations, and the evolving technological and socio-political landscape.
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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.