by Rob Stein, NPR's science desk correspondent and senior editor
I remember watching the film Gattaca back in 1997. It was a hot sci-fi thriller with a star-studded cast that included Jude Law, Uma Thurman and Ethan Hawke.
Gattaca envisioned a dystopian future where children are genetically selected to be endowed with what are considered the most desirable traits, creating a society of supposedly genetically superior and inferior people.
At the time, it seemed like a futuristic fantasy. In the real world, testing the genes of human embryos before trying to use them to make babies was just getting started, and was limited to detecting severe genetic disorders.
Fast-forward to today. A handful of start-ups are now offering anyone the chance to analyze every letter in the genetic code of their embryos to try – like high-tech fortune tellers – to peer into the genetic futures of their offspring.
Kate Medley for NPR
This new trend is generating both excitement and criticism. The companies say they’re helping prospective parents have the healthiest and happiest children possible. Critics say this kind of genetic analysis is still too unreliable — and that offering this gene testing could be a slippery slope to designer babies and a new form of modern-day eugenics.
Since I’ve long covered genetics, I decided to take a closer look at what these companies are doing exactly. I headed to North Carolina to visit Herasight, Inc., just outside Raleigh. Justin Schleede, a geneticist who runs Herasight’s lab, gave me a tour to explain how it works. I watched company scientists wearing blue gowns who extract DNA from blood and saliva samples from couples who want to have babies. The scientists also extracted genes from a few cells plucked from embryos they’ve created at IVF clinics. This includes embryos created by people experiencing infertility and those who go through IVF specifically so their embryos can get this in-depth genetic screening.
Technicians then make millions of copies of the DNA so all three billion letters in the genetic code of each embryo can be sequenced and then analyzed to produce “polygenic risk scores,” which estimate every embryo’s risk for thousands of diseases. The scores include rare genetic disorders like Tay Sachs and cystic fibrosis that doctors have long tested embryos for, but also much more common, much more complicated diseases, like heart disease, cancer, Alzheimer’s and schizophrenia. But Herasight also does the gene analysis to estimate longevity, BMI, height and even IQ.
I spoke to executives at two other companies, including Orchid Health in California, which only estimates disease risks, and Nucleus Genomics in New York, which gives estimates for even more than disease risks, height, IQ and longevity. Nucleus also provides estimates for traits like eye color, hair color, whether the baby will be left-handed, is likely to develop acne or go bald, among other things.
Officials at all three companies say their estimates have been carefully validated for their accuracy. And they dispute what they’re doing is morally or ethically questionable. In fact, they argue their services are helping provide the best that medical science offers today. The companies say they’ve screened thousands of embryos for hundreds of clients, and helped create dozens – possibly hundreds – of genetically screened babies.
But I also talked with several critics, including bioethicists and representatives from groups like the American College of Medical Genetics and Genomics and the American Association of Reproductive Medicine. They argue the companies are misleading customers about the usefulness of the polygenic risk screening, which can cost as much as $50,000. Some also note that this kind of service is eerily similar to the dark scenario depicted in Gattaca.
I also spoke to several customers from Nucleus and Herasight. All were primarily interested in trying to reduce the risk of having babies who would go on to develop diseases, such as diabetes or Alzheimer’s. Several were, however, also intrigued by what they’d learn about traits like IQ.
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