The other end of the screening spectrum is also changing. Carrier screening, which tests prospective parents for hidden genetic mutations that could affect their children, initially involved testing for specific genes in at-risk populations.
Now, it is open to almost anyone who can afford it. Companies will offer testing for hundreds of genes to help people make informed decisions when trying to become parents. But expanded carrier screening comes with a downside. And it’s not for everyone.
This is what I found when I attended the Progress Educational Trust earlier this week annual conference in London.
First, a bit of background. Our cells have 23 pairs of chromosomes, each containing thousands of genes. The same gene – say, the one that codes for eye color – can come in different forms, or alleles. if the allele is ChiefYou only need one copy to express that characteristic. The same is the case with the allele responsible for brown eyes.
if the allele is to retreatThe feature doesn’t appear unless you have two copies. This is the case, for example, of the allele responsible for blue eyes.
Things become more serious when we consider genes that can influence a person’s risk of disease. Having a single recessive disease-causing gene will usually not cause the disease. You Any problem. But genetic disease can appear in children who inherit the same recessive gene from both parents. There is a 25% chance that two “carriers” will have an affected child. And these cases may come as a shock to parents, with no symptoms and no family history of the disease.
