Screening human embryos for polygenic traits has limited utility

machine learning
statistics
genetics

Choose embryos for IVF implantation according to DNA-based trait prediction models.

Authors
Affiliations

Ehud Karavani

The Hebrew University of Jerusalem

Or Zuk

The Hebrew University of Jerusalem

Danny Zeevi

University of California, Los Angeles

Nir Barzilai

Albert Einstein College of Medicine

Nikos C. Stefanis

University of Athens, Medical School

Alex Hatzimanolis

University of Athens, Medical School

Nikolaos Smyrnis

University of Athens, Medical School

Dimitrios Avramopoulos

Johns Hopkins University School of Medicine

Leonid Kruglyak

University of California, Los Angeles

Gil Atzmon

Albert Einstein College of Medicine

Max Lam

Broad Institute of Harvard and MIT

Todd Lencz

Zucker School of Medicine at Hofstra/Northwell

Shai Carmi

The Hebrew University of Jerusalem

Published

November 21, 2019

Doi
Abstract

The increasing proportion of variance in human complex traits explained by polygenic scores, along with progress in preimplantation genetic diagnosis, suggests the possibility of screening embryos for traits such as height or cognitive ability. However, the expected outcomes of embryo screening are unclear, which undermines discussion of associated ethical concerns. Here, we use theory, simulations, and real data to evaluate the potential gain of embryo screening, defined as the difference in trait value between the top-scoring embryo and the average embryo. The gain increases very slowly with the number of embryos but more rapidly with the variance explained by the score. Given current technology, the average gain due to screening would be ≈2.5 cm for height and ≈2.5 IQ points for cognitive ability. These mean values are accompanied by wide prediction intervals, and indeed, in large nuclear families, the majority of children top-scoring for height are not the tallest.

Citation

@article{karavani2019screening,
  title={Screening human embryos for polygenic traits has limited utility},
  author={Karavani, Ehud and Zuk, Or and Zeevi, Danny and Barzilai, Nir and Stefanis, Nikos C and Hatzimanolis, Alex and Smyrnis, Nikolaos and Avramopoulos, Dimitrios and Kruglyak, Leonid and Atzmon, Gil and others},
  journal={Cell},
  volume={179},
  number={6},
  pages={1424--1435},
  year={2019},
  publisher={Elsevier}
}