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

Genes (Basel). 2020 Jun 12;11(6):648. doi: 10.3390/genes11060648.


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.

Keywords: PGT-P; genomic index; polygenic risk scoring; preimplantation genetic testing; relative risk reduction.

MeSH terms

  • Adult
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / diagnosis*
  • Diabetes Mellitus, Type 1 / genetics
  • Diabetes Mellitus, Type 1 / pathology
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / pathology
  • Humans
  • Male
  • Middle Aged
  • Multifactorial Inheritance / genetics*
  • Pedigree
  • Preimplantation Diagnosis / methods*
  • Risk Factors
  • Siblings