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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