According to the World Health Organization (WHO), over 10,000 human diseases are estimated to be caused by a mutation in a single gene. Such diseases are genetic, meaning parents can pass them on to their children. Since many genetic diseases are recessive, these disease-causing genes are often unknowingly passed from generation to generation. In fact, 80% of babies born with a genetic disease have parents with no known medical history of the disease. Many genetic diseases can have severe and sometimes life-threatening ramifications. Some are treatable but incurable. When starting a family, carrier testing can provide peace of mind and ease the anxieties many aspiring parents feel about the health and well-being of their future children.

What is a carrier?

Human DNA contains two copies of each gene. These copies work together to produce genetic traits. When a trait is recessive, a person must have two identical recessive copies of a gene in order to produce the trait. This means that recessive genes can “hide” in your DNA without producing any physical symptoms. Examples of diseases caused by recessive genes include cystic fibrosis, hemophilia, and Tay-Sachs disease. A person is considered a carrier of these diseases if their DNA contains one normal copy and one mutated copy of the disease-causing gene. This allows a disease to be carried in a family without any of the family members actually having the disease.

Why get tested?

Both first-time and experienced parents can benefit from carrier testing. If two individuals who are both carriers for a genetic disease have a child together, there is a 1 in 4 (25%) chance that their child will inherit the disease in question. Carrier testing helps determine the likelihood of a child being born with a certain genetic disease. This is especially important for parents or aspiring parents with a family medical history of a disease, and for members of populations known to be at higher risk of inheriting certain genetic diseases. The results of a carrier test with the support of a genetic counselor can help inform family planning decisions.

How does it work?

While the best time to have carrier testing done is before pregnancy, it is a simple and non-invasive cheek swab procedure that can be done during pregnancy as well. The purpose of the cheek swab is to collect cells from which to isolate DNA. The DNA is sequenced and analyzed in a lab to determine if the parent has any genetic mutations that are cause for concern. At first, it is only necessary for one parent to be tested. Testing the second parent only becomes necessary if the first parent tests positive as a carrier. If both parents test positive before pregnancy, doctors and fertility specialists can provide guidance help inform decision-making going forward. If both parents test positive during pregnancy, further tests can be performed to determine the condition of the developing baby. In either case, carrier testing helps parents prepare to provide the best possible care for their new baby.

Tesis Biosciences offers a variety of carrier testing options, with panels ranging from basic to extensive. For more information, contact us today.