Carrier screening is a test that can determine whether a person is a carrier of a genetic disorder. Even if you have no family history of the disorder and don’t have any symptoms yourself, it’s still possible to be a carrier. For this reason, most people don’t know they are carriers until after they’ve been screened.
Here’s how it works: everyone has two copies of each of their genes – one from each parent. Being a carrier of a genetic disorder means that one copy of a gene has a mutation and doesn’t work correctly. Because you still have one working copy of the gene, you probably wouldn’t have any health problems. However, if both biological parents are carriers of the same mutation, there’s a 25% chance that their child could be affected by the disease.
This is why some parents choose to have carrier screening done while they’re trying to conceive. They can understand their risk of passing down a genetic disorder, and if one or both of them is a carrier, they become better informed about that disorder.
Some of these diseases are more likely to occur in people of certain ethnicities. These include:
- Cystic fibrosis: Relatively common in all people, regardless of ethnicity
- Tay-Sachs disease: Most common in the Ashkenazi Jewish, Cajun, French Canadian populations. The disease is less common in other populations
- Sickle cell disease: Most common in the African American, Hispanic, Non-Hispanic Caribbean, Mediterranean, and Middle Eastern populations. The disease is less common in other populations
More and more couples are choosing to undergo carrier screening before conception, so if you plan on having kids, or more kids, soon, it’s certainly something to consider.
Sources
- “Genetic carrier screening.” Johns Hopkins Medicine. The Johns Hopkins University. 2016. Web.
- “Genetic diseases.” GDF. Genetic Disease Foundation. 2010. Web.
