Expanded carrier screening: Is it worth it?

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.