Genetic screening now allows parents to choose the healthiest embryos


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

PGT-P stands for Preimplantation Genetic Testing for Polygenic Disorders. It is carried out in conjunction with IVF and allows future parents to actively choose which of their own embryos to take, based on the strength of its genes. Rafal and Thuy obtained the genetic profiles of five potential embryos, and Aurein was the strongest candidate, as her embryo had the fewest identifiable genetic mutations that could cause the 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 child, 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 the development of all kinds of diseases: diabetes, heart disease, cancer and many others. 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 that PGT-P existed,” so he decided to give it a try.

Rafal is a neurologist and is interested in pioneering technologies, calling himself a “techno-optimist”. He even signed up to cryogenically store his brain when he died, in the belief that one day he would be resurrected, mind and spirit intact. In his eyes, genetic screening of embryos is nothing crazy or even special, it’s simply a natural next step for humans. “It’s like the first time someone made a phone call – of course, it was a unique moment, but actually it was just the beginning of something that everyone is doing now,” reflects Rafal. “In 10 years, this type of polygenic testing will be completely uncontroversial. People will do it naturally.”

Thuy and Rafal screened their embryos through Genomic Prediction, the first of several biotech firms in the US to open genetic screening services to expectant parents. By taking DNA samples from the embryo’s cells along with the genetic sequences of both parents, analysts are able to assemble a set of markers from which to construct a full genetic picture of the embryo. This effectively accelerates its developmental process to create a projection of what level of health a child born with those genes might enjoy. To help their clients put this data into context, each embryo is given a health score based on existing mutations in its genes that could one day be life-limiting, and prospective parents are shown how that score compares to the population average. . The ranking takes into account the severity of the condition, if present, as well as the ethnicity of the embryo, as this may also affect the frequency of the disease.

Aurea is a product of that ranking: she was the highest-rated embryo from Thuy and Rafal’s IVF collection and the cells they selected to give the best possible chance for a long, disease-free life. When Aurea is older, she will have access to the full set of embryonic screening data she shares with her parents. She’ll likely have her own genome sequenced too – Rafal has already bought a home testing kit for her – and use that information to guide her approach to health and lifestyle throughout her life. “I hope she’ll be happy about it,” says Rafal.

“People ask me if I’m trying to play God in choosing to do this,” Rafal adds, anticipating the next big question. He believes that “genetic selection does not play God, but works like a mechanic on molecular machines that sometimes break down and need to be fixed.” 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 mean a lower quality of life. Rafal doesn’t believe for a second that passing on unhealthy genes makes someone a bad parent. But he is unequivocal in his belief that he did the best thing for his child by giving her the best chance against the genetic disease. “As parents, we act as protectors of our children’s health, and it makes sense to treat genes not as mysterious determinants of identity, but as something you know is there and important; these are the same principles I apply in trying to take good care of my health. What is important,” he continues, “is that the process was successful, that my child was born healthy and she was happy.”



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