Why You Should Consider Testing for Carrier Diseases

Why You Should Consider Testing for Carrier Diseases

Once married, many couples decide to have children. Before you jump into the business of getting busy, consider having both of you genetically tested for carrier diseases such as cystic fibrosis. Information can be empowering to you as a couple when making a decision to have one or more children. It is estimated that every person carries between three and five genetic mutations. Those mutations mean their children could be at risk even if they have no disorder.

Genetic Facts

DNA is the building codex for all the cells in our body. Along the double helix are genes coordinating everything from eye color to reproductive organs. With over 200 different cells in the body, DNA has a hefty job keeping all that information in one place. The DNA features 46 chromosomes packed with genes. During the process of cell division, this information is copied from one cell to another infinitely. While copying the genetic code, errors can happen to result in a mutation of the gene. Abnormal genes can have lasting impacts on a person. Learn more about genetic testing with Harry Stylli, healthcare innovator.

Basic Reasons

People have a variety of reasons for getting tested. If someone in your family has the disease, you may want to get tested to see if you are a carrier for the same disease. Some ethnic backgrounds have higher risks for certain genetic mutations such as sickle cell anemia. There are some who become anxious wondering whether or not they are unwittingly passing on some disease to their unconceived child.

Testing Types

There is more than one type of genetic testing done. Single-gene testing is great when one spouse has a full panel and is a carrier for the gene. Instead of the other spouse having the full workup done, they can have the single-gene test to look for that specific gene to see if they too are a carrier. The level of comprehensiveness depends on the needs and concerns of the individual being tested. Small panels may look for as few as the 3 of the most common and severe disorders while a comprehensive full panel may look for 110 disorders from common to rare.

Test Results

What you do with the test results is purely up to you. If both partners are carriers of a mutated gene, there is a 25% chance the baby carries both mutated genes and has the disease. There is a 25% chance the baby carries none of the genes and a 50% chance of the baby being a carrier of the gene. There are also certain genetic disorders only carried by the X chromosome and only need the mother to be a carrier to be at risk. Keep in mind these risks are with each baby. One baby inheriting the disease doesn’t mean another will and vice versa. You can also have a prenatal diagnosis to determine if the baby has the disease after conception if desired.

Family planning ahead of time allows you and your partner to gather more information. Armed with that information, you can make changes, ease your worries and plan ahead. Genetics professionals are available to answer your questions regarding which tests to take and help you understand the results.

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