Carrier screening in the 21st century

Did you know that there’s a way to obtain information to make health care decisions that could help guide your family’s future, even before you get pregnant? Advancements in technologies have given way to better genetic testing using next generation DNA sequencing (NGS) – making it easier, cheaper, and more accurate than ever to get an idea of your and your partner’s genetic disease carrier status and whether or not you are at risk of passing on a genetic disease to your children.

What is carrier status?

Everybody has two copies of each gene: one inherited from their mom, and one from their dad. Some diseases – like cystic fibrosis and sickle cell disease – follow a pattern of recessive inheritance, which means that a person must have two non-working copies of a gene to actually have the disease. If just one copy of the gene doesn’t work, you are a carrier – this means that although you do not have the disease, you can pass on the non-working copy of the gene to your children. If you and your partner are both carriers, your child would have a 25% chance of inheriting two non-working copies of the gene, and having that particular genetic disease.

How does carrier screening help?

Carrier screening is a blood test ordered through your doctor which provides information about your chance to pass on a genetic disease to your child. Once the blood sample is taken, it is sent to a laboratory where your DNA is analyzed to see whether you are a carrier or not. If you are found to be a carrier for a specific disease, your partner may wish to have their DNA tested as well to see if they are a carrier of the same disorder.

If both you and your partner are positive for the same inherited disease, options are available to minimize your risk.  Carrier screening can provide vital information about your genetic reproductive risks, and provide you with information to help you make the best decisions for your family.

When do people get carrier screening?

People are encouraged to get carrier screening before they become pregnant so they can understand the chances of passing on an inherited disorder to their child before conception, but getting tested in early pregnancy can also help provide you and your family with significant information regarding your unborn child’s health.

The bottom line

Carrier screening provides information about your reproductive risks that may be used to help reduce the chance of having a child with a particular genetic disease. If you haven’t already, talk to your doctor to see if carrier screening is right for you.