If you and your partner plan on starting a family or growing your existing one, you might already be discussing your family medical histories. Talking about your immediate family’s medical history is crucial to determining potential health risks your children or future children might have. Still, you could be missing some important information that can only be found through genetic testing.

Genetic carrier screening is a simple test that can tell you whether you and your partner have any genetic changes that lead to health concerns when passed on to your children. Knowing before pregnancy can help you and your partner access a range of options that are more limited if you are tested during pregnancy. 

Learn more about carrier screening, who should receive carrier screening, and what carrier screening can tell you.

Childhood Genetic Conditions by the Numbers

80% of children who struggle with a genetic conditions have no family history of similar concerns

70% of children admitted to pediatric intensive care units have a genetic condition

10% of pediatric deaths are caused by an inherited genetic condition

What is carrier screening?

Carrier screening is a genetic test that offers couples information about genetic changes that could increase the risk of their child having specific inherited conditions that wouldn’t be obvious in their family histories. It can help you make informed decisions about reproductive measures, inform you if early intervention or treatment is necessary for you or your existing children, and identify the risk of passing on genetic conditions to your children.

At the Smith Family Clinic For Genomic Medicine, carrier screening is done by collecting a cheek swab at the clinic and sending it off to one of our partner labs for sequencing. Our experienced team of genetic counselors will walk you through the best testing options for you and, when results are ready, any findings.

The Smith Family Clinic offers paired expanded carrier screening, which means both partners are given a comprehensive test for hundreds of genetic conditions at the same time. Some conditions included in the test are cystic fibrosis, spinal muscular dystrophy, sickle cell disease, Fragile X syndrome, and more.

Who should do it?

Carrier screening is recommended for both partners who are planning to start or grow their family.

Everybody carries a handful of genetic changes, even without signs of a condition. A person only has symptoms of a recessive genetic condition when they have genetic changes in both of the two copies of a gene.

If you and your partner are both carriers, there’s a 25% chance your child could inherit two changed copies and develop the condition. You can be a carrier of a genetic change that causes these conditions even if you already have healthy children.

When is the best time to have carrier screening?

Carrier screening can be done during a pregnancy, but it’s especially beneficial before pregnancy. Couples who have carrier screening before pregnancy are empowered to make informed decisions about family planning that take into account their carrier status and specific risks. 

What are the benefits?

Carrier screening means that you don’t have to roll the genetic dice. Based on the screening results, some people may consider alternative reproductive measures. Knowing your carrier status allows you to prepare for what the future holds for your child and can also inform you whether or not your close relatives, such as parents or siblings, may also be carriers and need testing of their own. 

What does a positive result mean?

A positive result means that both partners are carriers of the same condition. This means there is a 25% chance that your future children may be affected by the condition. Please note that it isn’t always possible to predict the presence or severity of a condition.

If you receive a positive result, your genetic counselor will walk you through your test results to help you make informed decisions.

Carrier screening at the Smith Family Clinic

When you choose to receive carrier screening from the Smith Family Clinic, you have access to a team of experienced genetic counselors who understand the importance of carrier screening as you plan your family’s future.

Though carrier screening tests are available online, interpreting genetic test results can be complex and emotionally challenging. Working with our genetic counselors will help simplify carrier screening by providing clear explanations of your results, addressing your concerns, and guiding you through your options.

Our genetic counselors are committed to ensuring you receive accurate information tailored to your unique genetic profile and carrier status, empowering you to make informed decisions about your family’s health and future.

The Impact of Carrier Screening

As Smith Family Clinic patients, Breanna and Eric have experienced firsthand the difference that carrier screening makes.

As the young couple was considering growing their family, they learned about carrier screening from a friend in the medical field who emphasized the importance of having both partners tested before pregnancy.

Breanna and Eric searched from clinic to clinic to find a provider offering carrier screening. They were turned down multiple times — because Breanna wasn’t currently pregnant, most providers would not offer carrier screening. If they did, they would only offer it to Breanna, not Eric.

In every case, the screening tests only looked at a handful of disorders that are commonly checked, disregarding the hundreds of other conditions that Breanna and Eric could have been carriers for.

After some searching, the couple learned about the Smith Family Clinic. “We were thrilled to find a provider who prioritizes patient care the way Smith Family Clinic does,” said Breanna. “We were able to get an appointment so quickly. Because the clinic tests both partners for hundreds of conditions, we felt like we would get the thoroughness we needed to make informed decisions about our future.”

After an initial counseling session on their family histories, Breanna and Eric each gave a cheek swab sample that the clinic’s genetic counselors sent off for testing. When the couple returned for their disclosure appointment, they learned they were among the 2% to 3% of couples who both carry the same genetic condition.

 Because of the rarity of the condition they are each carriers for, Breanna and Eric would not have seen the full picture of their carrier status if Breanna had been the only patient tested or if they had received a screening test that only looked for a small amount of commonly seen conditions.

“We had no family history of genetic disorders, and because we are a mixed-race couple, the genetic counselor told us it was less likely we would both be carriers for the same condition,” said Eric. “We are incredibly grateful for the information we received.”

“Our testing helped us make informed decisions about our reproductive options,” said Breanna. “Knowledge is power, and we feel empowered thanks to the knowledge we gained from the Smith Family Clinic.”

If you are interested in learning more about carrier screening or scheduling a carrier screening appointment, contact the Smith Family Clinic at 256-327-9640.