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Open AccessArticle

Preimplantation Genetic Testing for Polygenic Disease Relative Risk Reduction: Evaluation of Genomic Index Performance in 11,883 Adult Sibling Pairs

1
Genomic Prediction Inc. 675 US Highway One, North Brunswick, NJ 08902, USA
2
Department of Obstetrics, Gynecology, and Reproductive Sciences, Rutgers University-Robert Wood Johnson Medical School, New Brunswick, NJ 08903, USA
3
Department of Physics and Astronomy, Hannah Administration Building, Michigan State University, 426 Auditorium Rd., East Lansing, MI 48824, USA
4
Department of Genetics, Rutgers University, Piscataway, NJ 08854, USA
*
Author to whom correspondence should be addressed.
Genes 2020, 11(6), 648; https://doi.org/10.3390/genes11060648
Received: 23 April 2020 / Revised: 18 May 2020 / Accepted: 10 June 2020 / Published: 12 June 2020
(This article belongs to the Special Issue EmbryoGenetics)
Preimplantation genetic testing for polygenic disease risk (PGT-P) represents a new tool to aid in embryo selection. Previous studies demonstrated the ability to obtain necessary genotypes in the embryo with accuracy equivalent to in adults. When applied to select adult siblings with known type I diabetes status, a reduction in disease incidence of 45–72% compared to random selection was achieved. This study extends analysis to 11,883 sibling pairs to evaluate clinical utility of embryo selection with PGT-P. Results demonstrate simultaneous relative risk reduction of all diseases tested in parallel, which included diabetes, cancer, and heart disease, and indicate applicability beyond patients with a known family history of disease. View Full-Text
Keywords: preimplantation genetic testing; PGT-P; polygenic risk scoring; genomic index; relative risk reduction preimplantation genetic testing; PGT-P; polygenic risk scoring; genomic index; relative risk reduction
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MDPI and ACS Style

Treff, N.R.; Eccles, J.; Marin, D.; Messick, E.; Lello, L.; Gerber, J.; Xu, J.; Tellier, L.C. Preimplantation Genetic Testing for Polygenic Disease Relative Risk Reduction: Evaluation of Genomic Index Performance in 11,883 Adult Sibling Pairs. Genes 2020, 11, 648.

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