Genetic screening now lets parents choose the healthiest embryos | MarketingwithAnoy

At 18 months old, Aurea Yenmai Smigrodzki is as curious as any other little child. She likes peanut butter, the beach and cell phones – or other toys that look like phones. She likes to copy her mom and dad, Thuy and Rafal, when they use theirs. Aurea does not know yet, but her birth was very special: She is the world’s first PGT-P baby, which means that she is statistically less likely than the rest of us to develop a genetic disease or disorder throughout her life.

PGT-P stands for preimplantation genetic testing for polygenic disorders. It is performed in conjunction with IVF and allows potential parents to actively choose which of their own embryos to take, based on the strength of its genes. Rafal and Thuy got the genetic profiles of five potential embryos, and Aureas was the strongest candidate because her embryo had the fewest recognizable genetic mutations that could continue to cause disease. “It was really a no-brainer,” Rafal says of the choice he and Thuy made to undergo the genetic screening process. “If you can do something good for your baby, you want to do it, right? That’s why people take prenatal vitamins.”

All parents want their children to be healthy, but many have reason to fear passing on something harmful. Our genes can predispose us to develop all kinds of diseases: diabetes, heart disease, cancer and many more. With this in mind, one could be forgiven for assuming that Rafal or Thuy carried some hereditary condition and wanted to break the chain. But the reality, Rafal admits, is that he “simply knew PGT-P existed,” and so he decided to give it a try.

Rafal is a neurologist with an interest in cutting-edge technologies and describes himself as a “techno-optimist.” He has even volunteered to have his brain cryogenically stored when he dies, in the belief that one day it will resurrect, thoughts and spirit intact. In his eyes, genetic screening of embryos is not something crazy or even special, it is simply the natural next step for humans to take. “It’s like the first time anyone ever made a phone call – yes, it was a unique moment, but it was really just the beginning of something that everyone is doing now,” Rafal ponders. “In 10 years, this kind of polygenic test will be completely uncontroversial. People will take it for granted. “

Thuy and Rafal screened their embryos through Genomic Prediction, the first of a few biotech companies in the United States to open up genetic screening services to potential parents. By taking DNA samples from the embryonic cells along with genetic sequences from both parents, analysts are able to draw a set of markers from which they can construct a complete genetic picture of the embryo. This effectively speeds up its developmental process to create a projection of what level of health a child born with these genes can enjoy. To help their clients put this data into context, each embryo is given a health score based on the existing mutations in its genes, which could potentially one day be life-limiting, and prospective parents will be shown how this score compares to the population average. The ranking takes into account the severity of conditions if they appear, as well as the ethnicity of the embryo, as this can also affect the incidence of the disease.

Aurea is the product of that ranking: she was the best-rated embryo from Thuy and Rafal’s IVF collection and the cells they chose to provide the best possible chance of living a long, disease-free life. As Aurea gets older, she will have access to the full set of embryonic screening data shared with her parents. She will probably also get her own genome sequenced – Rafal has already purchased a home test kit for her – and use that information to guide her approach to health and lifestyle throughout her life. “I hope she’s happy about it,” Rafal says.

“People ask me if I’re trying to play God when I choose to do this,” Rafal adds, expecting the next big question. He believes that “genetic selection does not play God, it works as a mechanic on molecular machines that sometimes break down and need to be repaired.” Of course, good genes are by no means a guarantee of a long and healthy life, and carrying an abnormality or even living with a hereditary disease does not always equate to a poorer quality of life. Rafal also does not believe for a moment that passing on unhealthy genes makes someone a bad parent. But he is unequivocal in his belief that he has done the best for his child by giving her the best odds against genetic disease. “As parents, we act as our children’s health advocates, and it makes sense to treat genes not as mysterious identity determinants, but as something you know is there and is important; these are the same principles that I apply in trying to take good care of my own health. What matters, “he continues,” is that the process was successful, my baby was born healthy, and she is happy. “

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