Genetic Testing: What You Need To Know

Genetic testing has been traditionally used to detect mutations or variants in your DNA and has many new uses in various areas of medicine. It can be used to diagnose genetic disorders or assess your risk of developing diseases. Most recently genetic testing has been used to determine things like your genetic origins and potential intolerances to certain drugs and foods. The information we can glean from your genetic makeup is quickly expanding as the science advances.

Genetic testing is complicated as it can take many different forms and be used for a wide array of purposes. If you’re curious about genetic testing, we’ll provide a brief breakdown below to help you decide whether it’s right for you.  

Types of Genetic Testing Available

Molecular Genetic Tests – Looks at single genes or short segments of DNA to identify mutations or variations

Chromosomal Genetic Tests – Looks at whole chromosomes or longer DNA segments including the telomeres to look for changes indicative of pathology

Biochemical Genetic Tests – Examines the protein level activity associated with specific genetic disorders

Why Get Genetic Testing Done?

During genetic testing, scientists examine your DNA and look for any unusual mutations or variations. Genetic testing is often performed on adults, but is sometimes performed on newborns and even performed prenatally.

Anyone can undergo genetic testing, but it is frequently used for these specific purposes:

• Diagnostic Testing

This is used to confirm the diagnosis of a disease caused by genetic mutations (i.e., cystic fibrosis, Huntington’s disease).

• Pre-symptomatic/Predictive Testing.

This assesses your risk of developing a genetic condition and is often performed before you display symptoms so you can take preventative steps to reduce your risk.

• Carrier Testing

These tests detect whether you carry genes associated with specific genetic conditions or mutations. If you have a family history of a specific condition or are part of a demographic prone to certain disorders, carrier testing may be useful, especially if you are planning to have children.

• Pharmacogenetics

This can help determine what medications or dosages will be most effective for you if you have a specific medical condition.

• Prenatal Testing

If you are pregnant, prenatal testing can check for abnormalities in your baby’s genes. It is frequently done to detect Down syndrome.

• Newborn Screening

This is actually required in every US state. Newborns undergo genetic testing to check for conditions that require early detection and treatment (e.g., congenital hypothyroidism, sickle cell disease, phenylketonuria (PKU)).

• Preimplantation Testing

This is conducted on anyone attempting to conceive a child through in-vitro fertilization. Prior to being implanted in the uterus, embryos are screened for abnormalities.

Genetic Testing: Preparation

Prior to undergoing genetic testing, gather any information you can about your family’s medical history. You will share this information with your practitioner and possibly a genetic counselor to help you better understand your personal risks for a variety of conditions. You should also talk about the possible implications and treatment options in the event you discover any concerning mutations.

Health insurance does not always cover genetic testing, so make sure to check your policy prior to undergoing testing and budget accordingly.

The Process

For most adults, the actual process of extracting a DNA sample is fairly simple. Usually, your practitioner will take a blood sample, but sometimes a cheek swab is required instead.

If you are undergoing prenatal testing, it is a bit more complicated. You have two options: amniocentesis and chorionic villus sampling.

During amniocentesis, your practitioner inserts a thin needle into your abdomen to extract amniotic fluid. During chorionic villus sampling, your practitioner takes a tissue sample from the placenta. This is done either by inserting a tube through your cervix or inserting a needle through your abdominal wall and uterus.

Getting Your Results

What happens when you get results depends on a lot of factors. Everyone’s journey with genetic testing will be different.

If anything abnormal is detected, you will have to discuss your options with a practitioner and sometimes a genetic counselor. The direction of your conversation will depend on the reason you underwent genetic testing to begin with.

For example, say you underwent testing to see if you carried the BRCA1 or BRCA2 mutations, which increase the risk of breast cancer. You may talk about options, such as a mastectomy, to reduce your risk. Another possible scenario is that you underwent prenatal testing and found you and your partner are carriers for cystic fibrosis. You may end up discussing having children via egg or sperm donation or exploring adoption as an alternative route to parenthood. A third option to this scenario would be embryo selection via in-vitro fertilization.

While a negative test can certainly be a source of relief, it is important to understand this does not eliminate your risk of a certain disease. For example, the majority of breast cancer patients do not have a genetic predisposition to developing cancer.

In some circumstances, a negative test can actually result in frustration. Often, patients experiencing chronic symptoms hope a definitive diagnosis will help them figure out the best treatment options. Hearing there is still no answer is therefore disappointing.

Sometimes, results are inconclusive. This generally means doctors are unable to differentiate between a disease-causing genetic mutation and a benign variation. In the event of inconclusive results, follow-up testing is often necessary.

As you can see from the above examples, whatever your results, genetic testing can be a very emotional, high-stress experience. Make sure to have a support system in place throughout the genetic testing process. Regular appointments with a licensed therapist can help you manage your mental health.

Genetic Testing: The Bottom Line

Genetic testing can be conducted for a variety of reasons. It is often an excellent way to assess your risk or your children’s risk of developing various diseases, giving you a chance to take preemptive steps to stay healthy. Genetic testing is an emotional experience, however, so make sure to prioritize your mental health throughout the process.

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.