Preimplantation genetic testing to determine polygenic disease risk: Will we know when to stop?

Abstract

Recent advances in genomics technologies have facilitated the introduction of new tools that broaden the scope of applications for genetic data. Preimplantation genetic testing using polygenic risk scores (PGT-P), a technique based on the fact that complex traits are influenced by multiple genes, is one such technology. Polygenic risk scoring involves the analysis of many genes in a single embryo to assess the odds of expressing diseaseand non-disease-related factors. This technique could alleviate subsequent burdens on healthcare systems, as it could lead to a population with reduced polygenic risk scores, potentially resulting in a lower incidence of genetic conditions, such as cardiovascular disease and cancer. However, following the introduction of PGT-P, numerous ethical concerns regarding its use have been raised. As such, it is crucial to gain a deeper understanding of stakeholder viewpoints regarding the technique. Worries include the validity and utility of PGT-P, limitations related to the number of embryos and available choices, and the challenges faced by prospective parents in terms of understanding and making informed decisions. Recently, published surveys have indicated that PGT-P is well accepted by both the general population and assisted reproduction patients; however, experts are concerned about the premature implementation of the technique. These findings raise the question of whether the general population is aware of the risks of technologies that could potentially manipulate the traits of future generations. To conclude, the value of PGT-P is indisputable if applied with caution, especially if relevant limits are not exceeded.