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Recent progress in complex trait genetics, coupled with the technical ability to generate accurate genome-wide genotypes from single-cell input, has made it possible to genetically screen embryos for common polygenic traits and disease risk. Unlike conventional approaches to pre-implantation genetic testing, polygenic risk scores are intrinsically probabilistic and multifaceted. The inherent ambiguities of polygenic embryo screening (PES) require careful consideration in order for clinicians, policymakers, and the general public to make informed decisions about the potential consequences of implementing PES.


In order to build an initial framework for the consideration of the ethical, legal, and social implications (ELSI) of PES, our research aims to establish two sets of empirical parameters: first, the statistical properties that will shape the potential application of polygenic risk scores in the prenatal setting; and second, the attitudes and perspectives of clinicians who would be at the front lines of administering PES, including genetic counselors, reproductive endocrinologists, and obstetricians. 

Supported by the National Human Genome Research Institute of the National Institutes of Health (R01 HG011711)

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