at 18 months Aged Aurea Yenmai Smigrodzki is as curious as any other toddler. She loves peanut butter, sand, and a cell phone—or any toy that looks like a cell phone. She likes to imitate her mom and dad, Thuy and Rafal, when they use theirs. Aurea doesn’t know it yet, but her birth was very special: She was the world’s first baby with PGT-P, which means she’s statistically less likely than the rest of us to have a genetic disorder or disease in our lifetime.
PGT-P stands for Preimplantation Genetic Testing for Polygenic Disorders. It is performed alongside in vitro fertilization and allows intended parents to actively select their own embryos based on the strength of their genes. Rafal and Thuy obtained genetic maps of five potential embryos, and Aurea was the strongest candidate because her embryos had the fewest identifiable genetic mutations that could cause disease. “It was really simple,” Rafal said of his and Thuy’s choices for 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 are justifiably afraid of passing on something harmful. Our genes predispose us to all kinds of diseases: diabetes, heart disease, cancer, and more. With that in mind, one could be forgiven for assuming that Rafal or Thuy had some heritable condition and wanted to break the chain. But the truth is, Rafal admitted that he “only knew about the existence of PGT-P,” so he decided to give it a shot.
Rafal is a neurologist with an interest in pioneering technologies, calling himself a “techno-optimist.” He even agreed to cryogenically store his brain after his death, believing that one day it would come back to life, mind and spirit intact. In his eyes, there is nothing crazy or even special about genetic screening of embryos, it is just a natural next step for human beings. “It’s like someone’s calling for the first time — of course, it’s a unique moment, but it’s really just the beginning of what everyone is doing right now,” Rafael muses. “In 10 years, this polygenic test will be completely uncontroversial. People will do it for granted.”
Thuy and Rafal screened their embryos through Genomic Prediction, the first of several U.S. biotech companies to offer genetic screening services to intended parents. Taking a sample of DNA from the embryo’s cells and the genetic sequences from both parents, analysts were able to map a set of markers from which they could construct a complete genetic map of the embryo. This effectively speeds up its developmental process to predict the level of fitness a child born with these genes is likely to enjoy. To help their clients put this data into context, each embryo receives a health score based on existing mutations in its genes that could one day limit life, and shows prospective parents how that score compares to the population average Condition. This ranking takes into account the severity of the condition (if shown) as well as the ethnicity of the embryo, as this also has an impact on disease incidence.
Aurea is a product of this ranking: she was the highest-rated embryo in Thuy and Rafal’s IVF series, and they selected cells that offered the best chance of living a long, disease-free life. When Aurea grows up, she will have access to the full set of embryo screening data shared with her parents. She might also have her own genome sequenced — Rafal has already bought her a home test kit — and use the information to guide her health and lifestyle throughout her life. “I hope she’ll be happy about it,” Rafal said.
“People ask me if I want to play God if I choose to do it,” Rafael added, looking forward to the next big question. He believes that “gene selection is not to play God, it is to act as a mechanic of molecular machines that sometimes break and need to be repaired.” Of course, good genes in no way guarantee longevity and health, and carrying abnormalities or even genetic diseases is not always is equivalent to a poorer quality of life. Rafal is not at all convinced that passing on unhealthy genes makes someone a bad parent. But he believed unequivocally that he did the best thing for his child and gave her the best chance against her genetic disease. “As parents, we are the guardians of our children’s health, it makes sense not to see genes as a mysterious determinant of identity, but something you know exists and is important; these are the things I’m trying to take care of my health The same principles used. Importantly,” he continued, “the process was successful, my baby was born healthy and she was happy.”