These labs say they can screen embryos for specific traits. Should you? : NPR

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Justin Schleide reaches over a black lab bench to pick up a tray of small plastic tubes.

“These are saliva samples as well as blood,” says geneticist Schleide, who runs Herasite Inc.Laboratory in Morrisville, N.C. “We also get cells from embryos.”

Heracyte, named after Hera, the Greek goddess associated with fertility, is one of a handful of new companies analyzing such samples for a controversial new type of genetic testing: polygenic embryo screening.

Like high-tech fortune-telling, the screening estimates the likelihood that a fetus will produce a child at risk for thousands of diseases, ranging from rare inherited diseases like Tay-Sachs and cystic fibrosis to common diseases with genetic factors like cancer, heart disease, diabetes and Alzheimer’s.

“People who are risk-averse and don’t want to just roll the dice come to us to get as much genomic information as they can to select embryos with the aim of producing happy, healthy, disease-free children,” says Schleide.

Some companies, like orchid healthBased in Palo Alto, California, only the health risks are calculated. Herasite goes further by predicting height, BMI, longevity, and even IQ. Nucleus Genomics Prospective parents in New York try to choose even more traits, including eye color, hair color, tendency to baldness and acne, and whether the baby will be left-handed.

“We call it genetic optimization,” says Kian Sadeghi, founder and CEO of . Nucleus Genomics. “We help people create their best children.” companies compile polygenic risk score, A numerical estimate of the probability of developing certain diseases and traits based on genetic variants. Clients use the score to choose which embryos to use to create a child.

But American College of Medical Genetics and Genomics and this American Association of Reproductive Medicine say that the science of polygenic risk scores has not progressed enough to make reliable estimates. Beyond genes, environment and lifestyle are important factors for many diseases. Some also argue that screening raises moral, ethical, and social concerns.

Science fiction is moving towards reality

Polygenic risk testing for embryos is what some futurists have dubbed the “Gattaca stack”. Named after the 1997 film that envisioned a dystopian society of genetic selection, the Gattaca Stack would combine technologies such as polygenic embryo screening. embryo editingartificial womb and Lab grown eggs and sperm To create genetically enhanced humans.

Nucleus Genomics advertises its embryo testing service in a New York campaign.

Nucleus Genomics

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Nucleus Genomics

Says, “I am very concerned about what kind of dystopian world might arise from using technologies in this way.” katie hassanExecutive Director of the Center for Genetics and Society. “At its core, it’s … a vision of mass-produced, genetically enhanced people, right? It’s an idea of ​​doing genetic engineering on a large scale with some vision of creating a better form of humanity, which I think is very disturbing.”

But Schleide and his colleagues, as well as executives at other companies, defend their services. They say their projections are very reliable and are focused primarily on stopping the disease – not on creating some kind of master race.

“I understand. It sounds a little scary. It’s like, ‘Oh my God. Is this like Gattaca?'” says Sadeghi of Nucleus Genomics.

He says, “But people want their child to be like them – a better version of themselves. That’s what parents really want.” “They don’t want some kind of superbaby. And I think when people understand that suddenly things become a lot less scary.”

Concerned parents look for reassurance

Christian Ward, 32, a tax accountant who lives in Las Vegas with his wife, signed up for that company’s services primarily to reduce the chances of having a child with type 1 diabetes, which Ward has.

“It’s really hard to go from a healthy life to being completely dependent on insulin,” says Ward. “It’s not something I would want to give any child. I wouldn’t want my child to always be thinking about their blood sugar and how to manage it.”

But he adds: “It’s a little strange to think that you can take a spin and see, ‘Oh, this embryo could potentially have this hair color, this eye color, all these other things.'”

His wife, Julia, a nurse practitioner, wants a healthy child.

“We’re really excited. For us we’re mainly looking at the medical side of it,” she says. “It keeps you a little more calm. Having a new baby is scary sometimes. It gives us a sense of peace with everything.”

Max Reilly, who is 30 and lives in British Columbia, Canada, signed up for Herasite’s services for similar reasons. He mainly wants to protect the child from the risk of Alzheimer’s.

“I’ve come across quite a few people with Alzheimer’s in my life,” he says. “It’s very hard on people and their loved ones. And it’s wonderful to reduce the chances of someone going through this and their children going through it.”

But he and his wife are also interested in reducing the risk of other diseases as well as producing the most intelligent children possible.

“It’s hard to imagine that you don’t want to be, you know, a little bit, a little bit smarter, a little bit faster,” Reilly says. “It’s kind of out of science fiction. It’s just science now. I think it’s incredible technological progress. I think it’s great.”

How good are the predictions?

But not everyone thinks it’s such a good idea. First of all, it is expensive. Up to $50,000, plus thousands more for IVF, which is physically demanding and carries risks. Some people get their embryos tested if they are already undergoing IVF for infertility. Others perform IVF specifically to prepare embryos for screening.

“Polygenic risk scores for fetuses are not ready for prime time yet,” says Dr. Susan KlugmanA medical geneticist who served as President of the American College of Medical Genetics and Genomics. “Polygenic risk scores for fetuses are a new technology. And the current evidence does not support their accuracy, their safety, or their clinical value. So ethically we worry about misleading patients and what polygenic risk scores might do.”

And this is especially true for complex traits like IQ, she says.

She’s also worried that parents could unknowingly pick up a fetus with a devastating disease that testing missed.

“When you’re selecting for, say, blue eyes, we don’t know whether you’re also selecting for a particular disease or disorder,” says Klugman. “We just don’t know.”

Some people fear that parents will be disappointed if their children do not live up to their expectations.

“The idea would be: ‘We paid you to be smart. So why aren’t you doing well in school? We paid you not to get cancer. How could you get cancer?'” he says. james teburyA bioethicist at the University of Utah. “There’s this illusion of control that doesn’t really exist. And if you’re a product of perceived control that doesn’t exist, you can be targeted as the problem.”

But companies dismiss the criticism. He says his estimates are state-of-the-art and carefully verified. He says that any new technology can be misused and is often criticized in the beginning. He noted that early genetic testing and IVF were initially denounced by some as dangerous.

back to the lab

Back at Herasite, Schleide shows how the polygenic risk score is calculated.

In one of the company’s labs, scientists in blue gowns begin the process by extracting DNA from the couples’ blood and saliva samples and cells from their fetuses.

“They go through this area, get processed – kind of like breaking the DNA out of the cells – separating the DNA and then preparing it to be used for analysis,” explains Schleide.

In another laboratory, the DNA is kept frozen until scientists can make millions of copies, so that genetic sequencers can trace all three billion letters of the embryo’s genetic sequence.

Mary Beth Rossi, Herasite’s senior molecular technologist, prepares laboratory samples.

Kate Medley for NPR

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Kate Medley for NPR

“Once we have the most accurate sequence we can go and try to do all the downstream analysis,” says Schleide.

Computerized analysis produces polygenic risk scores using complex algorithms developed from years of genetic research on large databases.

“These are very predictable scores,” says Schleide.

Clients then use those polygenic risk scores to choose which embryos to use to create a child.

“They’re just trying to create happy, healthy kids who will survive in the world as we see it today,” says Schleide.

So far these companies say they have created thousands of embryos for hundreds of prospective parents – and have already helped create dozens, possibly hundreds, of genetically screened babies.