Evidence map›Paper›PMID 34440279›Full record

ArticleGenes2021

Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations.

Laurent C A M Tellier, Jennifer Eccles, Nathan R Treff, Louis Lello, Simon Fishel, Stephen Hsu

Abstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

  1. Review
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  8. Review
  9. Polygenic embryo screening: quo vadis?Journal of assisted reproduction and genetics · 2024
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Laurent C A M TellierDepartment of Physics and Astronomy, Michigan State University, East Lansing, MI 48824, USA.
Jennifer EcclesGenomic Prediction, Inc., North Brunswick, NJ 08902, USA.
Nathan R TreffGenomic Prediction, Inc., North Brunswick, NJ 08902, USA.
Louis LelloDepartment of Physics and Astronomy, Michigan State University, East Lansing, MI 48824, USA.
Simon FishelCARE Fertility Group, Nottingham NG8 6PZ, UK.
Stephen HsuDepartment of Physics and Astronomy, Michigan State University, East Lansing, MI 48824, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Machine learning methods applied to large genomic datasets (such as those used in GWAS) have led to the creation of polygenic risk scores (PRSs) that can be used identify individuals who are at highly elevated risk for important disease conditions, such as coronary artery disease (CAD), diabetes, hypertension, breast cancer, and many more. PRSs have been validated in large population groups across multiple continents and are under evaluation for widespread clinical use in adult health. It has been shown that PRSs can be used to identify which of two individuals is at a lower disease risk, even when these two individuals are siblings from a shared family environment. The relative risk reduction (RRR) from choosing an embryo with a lower PRS (with respect to one chosen at random) can be quantified by using these sibling results. New technology for precise embryo genotyping allows more sophisticated preimplantation ranking with better results than the current method of selection that is based on morphology. We review the advances described above and discuss related ethical considerations.

Indexed as

Embryo, MammalianGenetic Predisposition to DiseaseMultifactorial InheritanceGenetic TestingHumanscomplex trait predictiongenetic engineeringgenomicsin vitro fertilizationPRS

Identifiers

PMID34440279
PMCPMC8393569

What OpenQuestion holds

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Registered trials

None linked

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.