Expanded carrier screening: Is it worth it?

Curated from MIT Technology Review — Here’s what matters right now:

This week I’ve been thinking about babies. Healthy ones. Perfect ones. As you may have read last week, my colleague Antonio Regalado came face to face with a marketing campaign in the New York subway asking people to “have your best baby.” The company behind that campaign, Nucleus Genomics, says it offers customers a way to select embryos for a range of traits, including height and IQ . It’s an extreme proposition, but it does seem to be growing in popularity—potentially even in the UK, where it’s illegal . The other end of the screening spectrum is transforming too. Carrier screening, which tests would-be parents for hidden genetic mutations that might affect their children, initially involved testing for specific genes in at-risk populations. Now, it’s open to almost everyone who can afford it. Companies will offer to test for hundreds of genes to help people make informed decisions when they try to become parents. But expanded carrier screening comes with downsides. And it isn’t for everyone. That’s what I found earlier this week when I attended the Progress Educational Trust’s annual conference in London. First, a bit of background. Our cells carry 23 pairs of chromosomes, each with thousands of genes. The same gene—say, one that codes for eye color—can come in different forms, or alleles. If the allele is dominant , you only need one copy to express that trait. That’s the case for the allele responsible for brown eyes. If the allele is recessive , the trait doesn’t show up unless you have two copies. This is the case with the allele responsible for blue eyes, for example. Things get more serious when we consider genes that can affect a person’s risk of disease. Having a single recessive disease-causing gene typically won’t cause you any problems. But a genetic disease could show up in children who inherit the same recessive gene from both parents. There’s a 25% chance that two “carriers” will have an affected child. And those cases can come as a shock to the parents, who tend to have no symptoms and no family history of disease. This can be especially problematic in communities with high rates of those alleles. Consider Tay-Sachs disease—a rare and fatal neurodegenerative disorder caused by a recessive genetic mutation. Around one in 25 members of the Ashkenazi Jewish population is a healthy carrier for Tay-Sachs. Screening would-be parents for those recessive genes can be helpful. Carrier screening efforts in the Jewish community, which have been running since the 1970s, have massively reduced cases of Tay-Sachs. Expanded carrier screening takes things further. Instead of screening for certain high-risk alleles in at-risk populations, there’s an option to test for a wide array of diseases in prospective parents and egg and sperm donors. The companies offering these screens “started out with 100 genes, and now some of them go up to 2,000,” Sara Levene, genetics counsellor at Guided Genetics , said at the meeting. “It’s becoming a bit of an a

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Original reporting: MIT Technology Review

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