The 411 on Genetic Testing

The 411 on Genetic Testing

When it comes to genetic testing, there is so much misinformation out there and many companies are trying to make a buck off of your DNA. We’re here to unravel the myths about genetic screening and planning for a healthy future for you and your family. Let’s clear things up so you know what type of testing is right for you and the best way to go about getting it! 

Here’s the scoop on genetic testing from a genetic counselor. 

All genetic testing is the same and checks for everything. MYTH.

Well, “everything” is impossible, but not all genetic tests are created equal. There are multiple types of genetic tests including reproductive genetic screening, cancer genetic screening, ancestry testing, diagnostic testing and others. Let’s focus on two important ones:

Reproductive genetic testing checks for conditions that you may carry that don’t cause symptoms in you but pose a risk to your future children if your partner is a carrier of the same condition. These at-risk carrier couples have options to have healthy children if they learn about their risk and reproductive options, especially before pregnancy. 

A cancer genetic screening test checks for mutations that increase the risk that you might develop certain types of cancer at some point in your lifetime. By identifying these risks, measures can be taken to help prevent cancer or detect it at an early, treatable stage. 

Tests you can order online are always the same as medical grade testing. MYTH. 

It is important to understand that there are different types of at-home genetic tests. If you are seeking health related information for medical purposes, testing through a Direct to Consumer (DTC) company is discouraged, as these companies do not always involve healthcare providers in the test ordering process and do not provide comprehensive medical grade testing or genetic counseling services. Results of DTC testing should always be confirmed by a certified clinical laboratory before they are used to manage your healthcare. JScreen is an example of an at-home option that offers medical grade reproductive carrier screening and cancer genetic testing, as well as genetic counseling with the results.               

There is no reason to do genetic testing if I was already tested or if my parents were tested. MYTH.

Research in genetics is constantly evolving. We are learning more about serious diseases and can efficiently and accurately test for more diseases using a simple at-home saliva test. Testing done even a few years ago may be outdated. If your parents were tested before giving birth to you, it was only for a few conditions, and much more comprehensive testing is available today.  

Getting tested is pointless because there is nothing I can do about the results. MYTH. 

When it comes to reproductive genetic screening, you can use the results to make informed decisions when family planning. There are several options for couples who are at risk to have a child affected with a genetic condition. One is in-vitro fertilization (IVF) with pre-implantation testing (PGT) to select embryos that are not affected with the disease. A second option is the use of a non-carrier egg- or sperm-donor. Some couples prefer to use prenatal testing to determine if the pregnancy is affected, and others choose testing after birth and treating the condition (if available). 

With cancer genetic screening, the results are used to determine if there is an increased risk for developing cancer in certain areas of the body and working with a physician to manage that risk. That might entail screening, like mammograms and colonoscopies, at an earlier age or more frequently than the general population; it could entail additional screening (like MRI or endoscopy) that isn’t recommended for the general population, or risk-reducing surgeries. There are many ways to ensure that risk for cancer development is reduced, or if cancer forms, it’s caught at an early and treatable stage.

Want to get tested? Here are some resources: 

JScreen is a national non-profit program dedicated to providing access to comprehensive and affordable genetic testing and counseling. A saliva kit is mailed to your home, you collect your sample and return it back to the lab. A certified genetic counselor reviews every registration and provides genetic counseling via tele-health to explain the results. 

You can also find a genetic counselor near you through the National Society of Genetic Counselors or ask your doctor to order your testing. 

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