Preimplantation Genetic Testing for Polygenic Disorders Successful As Parents Welcomed World's First PGT-P Baby

Aurea Yenmai Smigrodzki seems like any other toddler. She eats peanut butter, loves the beach, and playing with her mobile phone. The little girl may not know it yet, but she is the world's first "PGT-P baby," making her statistically less likely to develop a genetic disease or disorder throughout her life.

PGT-P stands for preimplantation genetic testing for polygenic disorders. According to Science Direct, it is a reproductive genetic technology in which embryos that are created through in vitro fertilization (IVF) are tested for the possible presence of hereditary genetic disorders or chromosomal abnormalities.

The technology allows parents-to-be to choose which of the embryos to take when getting pregnant based on the strength of the genes, as it can predispose a person to develop diabetes, heart disease, cancer, and many others.

Contrary to what many people would assume, Aurea's parents, Rafal and Thuy, did not have genetic conditions that they wanted to prevent from passing on to their children. Rafal said that he knew that PGT-P existed, and he wanted to give it a try.

How is PGT-P done

According to Wired, Rafal, and Thuy's PGT-P was done through Genomic Prediction, the first of a couple of biotech firms in the US to offer genetic services to prospective parents. Genomic Prediction gave the couple the genetic profiles of five prospective embryos, and Aurea was the strongest candidate. The embryo had the fewest recognizable genetic mutations that could progress to cause disease.

Rafal said that the choice to undergo the screening process is a no-brainer as the parents would do anything for the best interest of their child. He likened the option to taking prenatal vitamins.

PGT-P involved taking DNA samples from the embryo cells alongside genetic sequences from both parents. Analysts then draw up a set of markers where that can create a genetic picture of the embryo. The procedure fast-tracks the development process to create a projection of the health level of the child born from the embryo.

Each embryo is given a health score based on the existing mutations in its genes, which could potentially become life-limiting in the future. The parents-to-be are given embryo scores to the population average. The ranking would consider the severity of the condition, and the embryo's ethnicity, as this can impact disease incidence.

In the case of Rafal and Thuy, the Genomic Prediction used polygenic risk scores, or the genetic risk score, to show the likelihood of gene mutations among multiple embryos. In biology, the marker is commonly used in animal and plant breeding to improve the chances of having healthy and resilient livestock and crops and determine one's genetic health compared to another.

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Playing God?

According to her parents, Aurea is the top-rated embryo out of their IVF collection. The parents chose the cells that would give Aurea the best possible chance at living a long, disease-free life.

Rafal said that people ask him if he is playing God in choosing the procedure. As per Rafal, genetic selection is not playing God. For him, choosing the technology is like working as a mechanic on a molecular machine that would sometimes break and needs a fix, Crazy Bollywood says.

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