When humans reproduce, genes (including all of their corresponding mutations) are passed on from the mother and father’s DNA to the gamete. These genes provide the blueprint for life–instructing the body’s cells how to grow and develop, but also how to carry out the basic activities necessary to maintain life. Depending on the specific genetic mutations inherited from both parents, offspring may be born with something called a hereditary genetic disorder. If someone has a particular genetic mutation that can cause a genetic disorder, but does not have symptoms of the disorder themselves, then they are considered a genetic carrier.
In order to avoid passing on a hereditary genetic disorder to their children, many people turn to genetic carrier screening to better understand their own genetic profile, their partner’s genetic profile, and how their combined carrier status could affect their future offspring. While this probably sounds like a great idea to begin with, it can be challenging when undergoing the process, yourself (especially if you are unsure about which kind of genetic carrier screening is right for you). Keep reading for a few key points to consider when planning your pre-pregnancy or prenatal testing.
Understand Your Reason for Screening
The most important thing to do before you begin the genetic screening process is to have a clear idea of why you are undergoing this kind of testing. Do you want to know what kinds of disorders your child is at risk for? Do you want to know if your child is at risk for one or two particular genetic disorders? What will you decide if you find out that you are (or aren’t) a genetic carrier?
All of these questions and more should be considered carefully before you begin the testing process in order to select a test that best matches your personal goals. Your doctor or genetic counselor will be able to guide you through these questions and the specifics of beginning the genetic carrier screening process.
Investigate Your Family History
In order to choose a screening option that is best for your specific genetic profile, you should ask around to get a good idea whether or not certain hereditary genetic disorders run in your family. Many screening companies offer specific panels for a particular ethnic group, for example, Ashkenazi Jewish, that has been shown to be associated with specific kinds of genetic disorders. It’s also possible to pursue single-gene screening, where you and your partner are only tested for one specific disorder of your choosing.
Be Informed About the Options Available
Based on the information that you gather from you and your partner’s genetic background and with your goals for screening clearly in mind, you can begin to research the specific options available for genetic carrier screening. You can look at the many different metrics that matter to you: how many disorders are screened for, what kinds of disorders are screened for, the severity of the conditions screened for, and if a panel follows the American College of Medical Genetics, and Genomics and the American College of Obstetricians and Gynecologists guidelines. You should do your research before committing to any particular set of tests, and make sure to ask questions to the screening company (should you have any).
Speak to a Genetic Counselor
If you or your spouse are unsure about genetic carrier screening, or have questions about the process, it may be a good idea to contact a genetic counselor in your area. They will be able to better explain the reasons for testing, the different kinds of testing available, and any results that you receive from the process.