Who Should Get A Genetic Carrier Screening For Genetic Health Conditions?

The primary goal of people who take a carrier screening test is to find out whether  they carry any genetic mutations for certain diseases. It allows you to find out if you are at-risk for  giving birth to children with a genetic disease.

Carrier screening is a type of genetic test that determines whether you and your partner are genetic ‘carriers’ for certain inherited diseases which can be passed on to your child and cause serious health complications or experience symptoms..

Everyone who’s planning to conceive a child could benefit from getting a carrier screening, especially for individuals with a strong family history of certain inherited diseases should  consider getting tested. Although in most of the cases, the family history for carrier screening conditions is not present.

Carriers often do not know they have a genetic mutation for a disease since they usually do not have symptoms or have only mild symptoms.

If both you and your partner are carriers, you both may pass the genetic mutation along to your baby, the baby could end up with the disease.

Why Should Both Soon-to-Be Parents Get a Genetic Carrier Screening?

If you’re planning a family and feel apprehensive that your children could possibly acquire the most common genetic diseases, a carrier screening for both you and your partner will help you address the concern by understanding your genetic carrier status.

Both you and your partner should get the carrier screening, because the risk of passing one of the common inheritable diseases to your future child increases if you both are carriers of the same genetic disease.

If you and your partner are planning to start a family, and one of you has taken the CircleDNA test and found out about a pathogenic genetic mutation, you’d want to encourage your partner to take the DNA test as well. You’d want to find out if he or she has a genetic mutation for the same disease in their DNA.

If neither of you know about your genetic carrier status, both of you should consider getting your DNA tested.

Undergoing genetic testing like the CircleDNA test can help determine whether you or your partner carry any inherited genetic mutations that you may potentially pass to your children. In this carrier screening test, we screen for 163  genes that are tested with CircleDNA. Your report will let you know if you carry any mutations, and the associated diseases could pass on to your future children.

CircleDNA’s whole exome sequencing screens for likely pathogenic or pathogenic mutations i.e., to look for known as well as rare genetic mutations in the gene. This easy to administer at home DNA test has a 99.9% analytical accuracy based on the most advanced next-generation sequencing technology. Pathogenic mutations detected by CircleDNA are classified by following the standards and guidelines for mutation interpretation from the American College of Medical Genetics and Genomics (ACMG), so the genetic information provided by the test are up to the highest laboratory quality testing standards.

If you find out that both you and your partner are carriers of the same mutated genes for debilitating and fatal illnesses, you can speak with a genetic counselor about your risks and explore diagnostic options such as having tests done during pregnancy.

You could also consider eliminating the risk with assisted reproductive technology such as IVF, using which you can screen the embryos for specific genetic diseases with preimplantation genetic testing also called as PGT.

Get Genetic Carrier Screening if Serious Diseases Run in Your Family

When you already know a certain disease runs in your family such as Sickle Cell Disease, a common inheritable disease caused by a gene mutation in the HBB gene, you have every right to be concerned for your future children. After all, this will impact your future child’s quality of life if it’s passed to them, as well as your family dynamics, and maybe even your financial and emotional wellness because treating illnesses are physically, emotionally, and financially draining.

Detecting that you are a carrier of a genetic disease could be a scary thought, but having accurate information based on your genes empowers you to make the right choices for your future family. Getting a genetic test is the only way to confirm if you’re a carrier because your genes are invisible to the naked eye. Don’t wait before it’s too late to get tested. Do it now because it is the biggest act of love you can give your future children.

Get Carrier Screening Because You Don’t Have Any Way of Knowing You’re a Carrier

Carriers may not have the disease. They may carry disease-causing mutations with no symptoms. This means they do not know the gene mutation is in their DNA unless they test with carrier screening to find out.

While it’s true that being a carrier doesn’t guarantee your child will get the disease, it significantly increases their chance of getting the disease if you’re a carrier, and that’s undeniable.

Being a carrier may still be at risk of symptoms for certain diseases such as Hereditary Hemochromatosis. There may be an increased risk of passing down the genetic disease to your child. It’s crucial to find out if you are a genetic carrier of such diseases through genetic carrier screening.

Huntington’s is one of few diseases that can be passed with just one parent containing the gene mutation in their DNA. However, in most cases, the child would have to inherit one altered gene from each parent, meaning both parents were carriers.

The common inherited diseases passed from parents to children include:

  • Cystic Fibrosis
  • Sickle Cell Disease
  • Tay-Sachs Disease
  • Thalassemia
  • Non-Syndromic Hearing Loss & Deafness

Just to name a few examples.
For the sake of the health of your future children, genetic carrier screening is one of the most responsible steps you can take during your family planning stage with your partner.


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