What Does Genetic Testing Show?

Thanks in no small part to companies like 23andMe, there has been an increased public interest in DNA and genetic testing as of late. While often used to explore one’s ancestry, genetic testing actually has medical purposes and is often used to detect potentially concerning mutations and variants.

While some people undergo genetic testing out of simple curiosity, your doctor may recommend genetic testing as part of preventative care, family planning, or to diagnose an inheritable condition. You can learn a lot about your health from genetic testing – and find ways to mitigate your risk for developing many medical conditions.

Below, we’ll discuss genetic testing and what you can learn from it.

Direct-To-Consumer Testing

Examples of direct-to-consumer testing include services like 23andMe and Ancestry.com. These services typically use what is called single nucleotide polymorphism (SNP) genotyping to take a deep dive into your DNA. Such services often provide insight into where your ancestors came from and connect you with relatives across the globe, but they can also offer insight into your health, including your relative risk for a variety of conditions.

Direct-to-consumer products can cost anywhere from $100 to $500 and are typically not covered by insurance. While SNP genotyping is often used in clinical testing, practitioners also use whole genome (WGS) and whole exome sequencing (WES). WGS looks at the entire genome, while WES looks at a collection of protein coding regions of your DNA. Both can be used in clinical settings to diagnose certain conditions or assess your risk for developing them.

While companies like 23andMe do provide health screenings, they’re primarily a means of exploring your heritage and can even give you interesting insights on variants you carry. You may find you’re genetically inclined to sneeze in sunlight, for example, or have a higher likelihood of being afraid of heights. However, they are not recommended for medical purposes.

For matters like family planning, diagnosis, and preventative care, talk to a professional genetic counselor.

Medical Reasons For Genetic Testing

There are many reasons a doctor may suggest genetic testing. Some of the most common include:

• Diagnostic Testing to confirm the diagnosis of a disease caused by genetic mutations
• Presymptomatic/predictive testing that assess your risk for developing a genetic condition
• Carrier testing to see whether you carry the genes associated with specific conditions
• Pharmacogenetics, which helps determine which medications and dosages are best suited for you

Adults are not the only ones who undergo genetic testing. Prenatal testing can be performed on babies in-vitro to detect abnormalities, and embryos used for in-vitro fertilization are generally screened before implantation. Newborn genetic screenings are actually required in the United States as they test for conditions that require early intervention to treat.

What Does Genetic Testing Show?

As we talked about earlier, genetic testing is often used to teach people more about their heritage. Services like 23andMe can trace your DNA back many generations and show you where your ancestors came from. Many people who were adopted at birth or conceived through donor sperm or eggs use these services to connect with their biological families later in life.

However, when it comes to genetic testing for medical purposes, it can show you a lot about your current health and potential problems you may face later in life. Broadly speaking, genetic testing can show whether you or your child are carrying variants associated with certain diseases. Interpreting what these results mean, however, can be complicated and usually requires professional consultation. A genetic counselor can walk you through your results and explain the implications they have for your health and future.

In many cases, genetic testing serves as a form of preventative medicine. If your family has a history of heart disease, for example, a genetic test may reveal you carry variants associated with a heightened risk. You may need to make certain changes to your diet and exercise regimen to take proactive steps at lowering your risk of a heart attack or similar issue in the future. 

Genetic testing is also used in family planning. It can show you your rough risk of passing on a inheritable disorder – like cystic fibrosis – onto your children. It can be especially important for people with a family history of serious genetic disorders who may want to consider alternative paths to parenthood if they risk passing such conditions onto their children.

Genetic testing is often the final or close to final step in diagnosing a specific condition. If you display common symptoms of a genetic disorder, diagnosis can be confirmed via genetic testing. This can help both in terms of insurance purposes (many policies requiring a diagnosis for coverage), and can also help your doctors determine the best treatment route for you.

While genetic testing can be an invaluable experience in terms of optimizing your health and well-being, it can also be an emotional one. It’s best to ensure you have a strong support system in place while undergoing genetic testing. Seeing a therapist throughout the process is always a good idea.

What Does Genetic Testing Show? The Bottom Line

Genetic testing can help you satisfy your curiosity about your heritage and connect you with biological family members, but it can also be used to help screen you for inheritable conditions. Knowing your precise genetic risk factors can help you optimize your health in the present to reduce your risk for illness and disease later in life.

At CORR, all members have access to genetic testing. This helps us identify your risk for various conditions, determine which treatment routes are the most optimal for your individual needs, and alert us to any potential medication sensitivities. Reach out here to learn more.