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

Griffin, Darren K., Gordon, Anthony T. (2023) Preimplantation Testing for Polygenic Disease (PGT-P): Brave New World or Mad Pursuit? DNA, 3 (2). pp. 104-108. ISSN 2673-8856. (doi:10.3390/dna3020008) (KAR id:101571)


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.

Item Type: Article
DOI/Identification number: 10.3390/dna3020008
Uncontrolled keywords: PGT-P, polygenic risk score, genome wide association study
Subjects: Q Science
Q Science > QH Natural history > QH301 Biology
Divisions: Divisions > Division of Natural Sciences > Biosciences
Funders: University of Kent (
SWORD Depositor: JISC Publications Router
Depositing User: JISC Publications Router
Date Deposited: 09 Jun 2023 14:09 UTC
Last Modified: 13 Jun 2023 08:09 UTC
Resource URI: (The current URI for this page, for reference purposes)

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