ArticleFrontiers in endocrinology2019
Utility and First Clinical Application of Screening Embryos for Polygenic Disease Risk Reduction.
Article in Frontiers in endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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
37 citing papers in PubMed, 78 citations in OpenAlex.
- Evaluating concordance of preimplantation genetic testing-whole-genome sequencing with genetic findings in live-born children.F&S reports · 2026Article
- Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.Biochemistry and biophysics reports · 2026Review
- PEStimate: predicting offspring disease risk after polygenic embryo screening.Bioinformatics (Oxford, England) · 2026Article
- [Application of polygenic risk score-based comprehensive breast cancer risk assessment in preimplantation embryo selection for aZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2026Article
- Modeling polygenic embryo screening in real-world IVF patients demonstrates limitations on efficacy.medRxiv : the preprint server for health sciences · 2026Article
- A context-specific evaluation of polygenic embryo screening in best-prognosis preimplantation genetic testing cycles.Human reproduction open · 2026Article
- Ethical and social implications of implementing polygenic embryo screening into clinical care: A scoping review.Genetics in medicine open · 2026Review
- Polygenic risk scores and embryonic screening: considerations for regulation.Journal of medical ethics · 2025Article
- Article
- Promises and pitfalls of preimplantation genetic testing for polygenic disorders: a narrative review.F&S reviews · 2025Article
- Preimplantation genetic testing for polygenic disorders: Viewpoints of reproductive genetic counselors and reproductive endocrinology and infertility specialists in the United States.Journal of genetic counseling · 2025Article
- Foretelling the Future: Preimplantation Genetic Testing and the Coming of Polygenic Embryo Screening.Journal of clinical medicine · 2025Review
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
- Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.BMC pregnancy and childbirth · 2024Article
- Polygenic embryo screening: quo vadis?Journal of assisted reproduction and genetics · 2024Review
- Public Attitudes, Interests, and Concerns Regarding Polygenic Embryo Screening.JAMA network open · 2024Article
- Modular Ontologies for Genetically Modified People and their Bioethical Implications.Nanoethics · 2024Article
- Research progress and challenges of preimplantation genetic testing for polygenic diseases.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Review
- Ethical, legal, and social implications of genetic risk prediction for multifactorial disease: a narrative review identifying concerns about interpretation and use of polygenic scores.Journal of community genetics · 2023Article
- Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores.European journal of human genetics : EJHG · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For over 2 decades preimplantation genetic testing (PGT) has been in clinical use to reduce the risk of miscarriage and genetic disease in patients with advanced maternal age and risk of transmitting disease. Recently developed methods of genome-wide genotyping and machine learning algorithms now offer the ability to genotype embryos for polygenic disease risk with accuracy equivalent to adults. In addition, contemporary studies on adults indicate the ability to predict polygenic disorders with risk equivalent to monogenic disorders. Existing biobanks provide opportunities to model the clinical utility of polygenic disease risk reduction among sibling adults. Here, we provide a mathematical model for the use of embryo screening to reduce the risk of type 1 diabetes. Results indicate a 45-72% reduced risk with blinded genetic selection of one sibling. The first clinical case of polygenic risk scoring in human preimplantation embryos from patients with a family history of complex disease is reported. In addition to these data, several common and accepted practices place PGT for polygenic disease risk in the applicable context of contemporary reproductive medicine. In addition, prediction of risk for PCOS, endometriosis, and aneuploidy are of particular interest and relevance to patients with infertility and represent an important focus of future research on polygenic risk scoring in embryos.
Indexed as
Identifiers
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.