Dr. Nathan Treff ISRG presentation in Beijing, China: "Expanded preimplantation genetic testing: polygenic disease risk"

Preimplantation genetic testing (PGT) has demonstrated clinical utility for aneuploidy screening, monogenic disorders, and structural rearrangements. Polygenic disorders including cancer, diabetes, and heart disease affect more than 25% of the human population.

Preimplantation genetic testing (PGT) has demonstrated clinical utility for aneuploidy screening, monogenic disorders, and structural rearrangements. Polygenic disorders including cancer, diabetes, and heart disease affect more than 25% of the human population. 


In addition, individuals with infertility have a higher risk than the general population. We have developed the first PGT method capable of predicting risk for several common polygenic disorders (PGT-P). The platform used provides accurate predictions for PGT-A, PGT-M, PGT-SR, and PGT-P. When evaluating a cohort of adult siblings with history of type 1 diabetes, risk reduction with genetic testing ranges from 45% to 72% when 2 to 5 siblings are available, demonstrating the clinical utility of PGT-P. As more population level DNA databases and predictors become available, PGT-P may lead to reduced incidence of disease in humans.



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