Related Experiment Video
Updated: Sep 30, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Preimplantation genetic testing to determine polygenic disease risk: Will we know when to stop?
Daniela Paes de Almeida Ferreira Braga1,2, Amanda Setti2, Rose Marie Melamed3
1Science for Everymind. São Paulo-Brazil.
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.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Polygenic Traits
What is Genetic Engineering?

