Preimplantation Testing for Polygenic Disease (PGT-P): Brave New World or Mad Pursuit?

Abstract

In preimplantation testing for monogenic disease (PGT-M), we are used to specific and directed diagnoses. Preimplantation testing for polygenic disease (PGT-P), however, represents a further level of complexity in that multiple genes are tested for with an associated polygenic risk score (PRS), usually established by a genome-wide association study (GWAS). PGT-P has a series of pros and cons and, like many areas of genetics in reproductive medicine, there are vocal proponents and opponents on both sides. As with all things, the question needs to be asked, how much benefit does PGT-P provide in comparison to the risks involved? For each disease, a case will need to be made for PGT-P, as will a justification that the family involved will actually benefit; the worry is that this might be more work than the cost justifies.

Keywords

• PGT-P
• polygenic risk score
• genome wide association study