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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Polygenic Traits01:18

Polygenic Traits

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Related Experiment Video

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Screening Human Embryos for Polygenic Traits Has Limited Utility.

Ehud Karavani1, Or Zuk2, Danny Zeevi3

  • 1Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.

Cell
|November 26, 2019
PubMed
Summary

Embryo screening for traits like height or IQ offers minimal genetic gain with current polygenic scores. The potential benefit is limited, even with many embryos, highlighting the need for realistic expectations in genetic selection.

Keywords:
cognitive abilitycomplex traitsembryo screeningembryo selectionheightpolygenic scorespre-implantation genetic testingquantitative genetics

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Area of Science:

  • Human Genetics
  • Reproductive Technologies
  • Bioethics

Background:

  • Polygenic scores are increasingly explaining human complex traits.
  • Advances in preimplantation genetic diagnosis enable embryo screening.
  • Unclear outcomes of embryo screening hinder ethical discussions.

Purpose of the Study:

  • To evaluate the potential genetic gain from embryo screening for complex traits.
  • To define genetic gain as the difference between the top-scoring embryo and the average embryo.
  • To assess the impact of the number of embryos and score variance on potential gains.

Main Methods:

  • Utilized theoretical models.
  • Conducted simulations.
  • Analyzed real-world genetic data.

Main Results:

  • Genetic gain increases slowly with the number of screened embryos.
  • Gain increases more significantly with higher variance explained by polygenic scores.
  • Current technology yields average gains of ~2.5 cm for height and ~2.5 IQ points for cognitive ability, with wide prediction intervals.

Conclusions:

  • The average genetic gain from embryo screening for height and cognitive ability is modest with current polygenic score technology.
  • A significant proportion of top-scoring embryos do not result in the highest trait values in practice.
  • Realistic expectations are crucial for informed ethical debates surrounding embryo screening.