How to Get Genetic Testing

The actual procedure of having genetic testing done is the easy part of the process—you’ll often just have to spit into a tube or wipe a big cotton swab on the inside of your cheek. What’s more difficult is deciding whether to get testing done and what types of testing to get, as well as how to interpret and respond to the results. Although you can easily order a collect-at-home commercial genetic test, it’s usually best to work with your doctor and possibly a genetic counselor. They can use their expertise to help you navigate the thorny questions that often surround genetic testing. However you go about it, make sure to get life insurance before you have genetic testing done as a positive result for a genetic disorder may disqualify you.

Method 1

Method 1 of 3:

Deciding to Get Tested

1
Determine which type of genetic testing you want to undergo. There are over 1,000 different types of genetic tests out there, many of which are targeted toward very specific genetic conditions. Clarify what it is that you want to find out, then determine which tests may be able to provide the information you desire.^{[1]XResearch source}
- The 3 major categories of genetic tests include molecular genetic tests, which test specific genes (shorter lengths of DNA); chromosomal genetic tests, which test particular chromosomes (longer lengths of DNA); and biochemical genetic tests, which test the amount or activity level of certain proteins that may indicate genetic conditions.
- Primary types of testing include diagnostic testing (checking for a particular condition), predictive testing (determining your likelihood of developing a condition), carrier testing (to see if you are likely to pass on certain conditions), prenatal testing (testing a fetus in the womb), newborn screening (routine testing after birth), and forensic testing (testing for legal purposes such as establishing paternity).^{[2]XResearch source}
- Talk to your doctor if you have questions about genetic testing.
2
Evaluate the potential benefits of getting tested. The information revealed by genetic testing can provide a great deal of relief. It can confirm that you don’t have a particular genetic condition or that you’re unlikely to either get it or pass it along to your children. And, even if you get an undesirable result—such as confirmation that you have a certain condition—you have the information needed to plan your strategy moving forward.^{[3]XResearch source}
- For example, even if aborting your fetus would never be an option for you, you might benefit from getting prenatal genetic testing. You’ll either get the extra relief of knowing that your fetus does not have certain genetic conditions, or you’ll be able to plan ahead for any conditions that your fetus may develop.
- Keep in mind that even if you get a positive result, there is a possibility that you won’t develop the condition. A positive result often only indicates your probability for developing the condition.
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3
Don’t ignore the potential negatives of genetic testing. While the physical risks of genetic testing are minimal, the possible risks to your mental health and emotional wellbeing are something you may want to take into consideration. It can be devastating to find out that you (or your fetus or infant) have a genetic condition that will cause significant health impacts, especially if there is no current treatment for the condition. In the case of an untreatable illness, you may decide that not knowing is preferable.^{[4]XResearch source}
- Even though many nations have laws in place to prevent “genetic discrimination” by employers, insurers, and so on, you might also worry that your genetic information will be used against you in some fashion.^{[5]XResearch source}
- Depending on the nature of the testing, you might unwittingly unearth family secrets—for instance, finding out that you’re not genetically related to your father. Some people may want to know this type of information no matter what, while others may prefer never to find out.
- Prenatal testing, which involves drawing out amniotic fluid, is slightly more of a medical risk than other types of genetic testing. Talk to your doctor about the potential risks and benefits.
4
Work with your doctor or genetic counselor to schedule clinical testing. Ideally, genetic testing should be conducted as part of a genetic counseling program that’s supervised by a medical professional. That way, you can talk through all the details of the test and weigh the pros and cons with the help of a trained professional.^{[6]XResearch source}
- Your primary care doctor may refer you to a genetic counselor if you have sound medical reasons for getting genetic testing.
- You’re under no obligation to undergo genetic testing if you meet with a genetic counselor. The choice is always yours.
5
Check that any commercial genetic test is properly certified. Many companies now offer various types of collect-at-home genetic testing to help you determine your ancestry, uncover potential genetic conditions, or both. While these tests are very simple to take and quite affordable, take some time to evaluate the company before ordering a test kit.^{[7]XResearch source}
- In the U.S., for example, make sure the testing laboratory is certified to meet CLIA (Clinical Laboratory Improvement Amendments) standards.
- Read the fine print in the company’s promotional materials. What will they do with your sample after testing it? Will they retain access to your genetic profile? Are they permitted to share this profile with others? If you’re not comfortable with the answers you find, look for another option.
6
Determine the cost for testing and whether insurance can (or should) assist. Genetic testing costs can vary widely, from around $100 USD for a commercial test to $1000 USD or more for specialized clinical tests. In many cases, though, tests that are considered medically necessary should be eligible for partial or full coverage by insurance.^{[8]XResearch source}
- However, some people are wary of getting their insurer involved in genetic testing, fearing that the insurer then has a claim to access their genetic profile. While health insurers in the U.S. and many other countries are not allowed to discriminate based on genetic information, you may want to contact your insurer first and get clarification on whether it will have access to your profile.^{[9]XResearch source}
7
Provide informed consent and remember that you can revoke it. Many U.S. states require you to sign an informed consent document before submitting a genetic sample. “Informed consent” means that you’ve been informed about the nature of the test, the goal of the test, the potential benefits and risks of taking the test, and other relevant test details. Don’t sign the form and take the test until you’re confident that your questions and concerns have been addressed.^{[10]XResearch source}
- An informed consent form is not a legal contract that requires you to go through with the genetic testing, though. You have every right to change your mind up to the point when the sample is collected, and possibly even until the testing is actually conducted. The only exception is if you’re required to take a genetic test as part of legal proceedings.
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Method 2

Method 2 of 3:

Undergoing Genetic Testing

1
Provide a cheek swab as the most common collection technique. This collection method is often used for both clinical and commercial genetic tests. The specific instructions may vary, but typically you’ll need to rub a sterile cotton swab on the inside of your cheek for 30-60 seconds, then deposit it directly into a sterile tube.^{[11]XResearch source}
- In a clinical setting, a nurse or technician will typically collect the sample. For commercial tests, you’ll typically collect the sample yourself.
- You may need to avoid eating, smoking, chewing gum, drinking anything other than water, using mouthwash, or putting anything else in your mouth for 1 hour or more before the test.
2
Give a blood, hair, skin, or other sample as required for certain tests. Some commercial or clinical tests involve providing a saliva sample, which means you have to either spit or drool into the collection tube. Otherwise, the process and restrictions (such as not eating, smoking, etc. beforehand) are similar to a cheek swab test. Other possibilities include, but aren’t limited to:^{[12]XResearch source}
- Hair follicle testing. 10-20 entire hair shafts, including the follicles, must be plucked with sterile tweezers and deposited in a sterile tube. Cut hairs or hairs collected from a brush won’t work.
- Skin or fingernail testing. Skin cells may be scraped off and collected for some types of clinical tests, while cut fingernails may be used for certain clinical or commercial tests. Once again, using sterile collection tools and methods is critical.
- Blood or semen testing. These types of testing should always be conducted in a clinical setting.
3
Have a sample of amniotic fluid collected for prenatal testing. This is most commonly done if an initial lab genetic screening came back with a high probability of genetic abnormalities in the fetus. Prenatal testing should always occur in a licensed clinical setting since there is some risk involved in using a needle to draw out some of the amniotic fluid that surrounds the fetus. That said, in trained hands it’s nearly always a very quick and simple procedure.^{[13]XResearch source}
- This type of prenatal testing is often called amniocentesis.
- Amniocentesis does appear to very slightly increase the risk of miscarriage, although the actual risk remains quite low. Talk to your doctor about all the potential benefits and risks of testing before deciding whether to proceed.
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Method 3

Method 3 of 3:

Managing the Test Results

1
Expect to wait 2 weeks to several months to get your results. Genetic testing generally isn't a quick and easy process. Even if your test is put on the “fast track” for medical, legal, or other reasons, it will likely take a minimum of 2 weeks for your results to become available.^{[14]XResearch source}
- Commercial tests, or specialized genetic tests, may have longer wait times. In some cases, it may take several months for your results to be analyzed, compiled, and returned.
2
Get medical clarification on what the results mean for you. Even though they’re often boiled down to “positive” (as in yes, you have a certain condition) or “negative” (as in no, you don’t have it), genetic testing results are actually quite complex. Genetic testing results can rarely if ever provide 100% absolute certainty, which means they require interpretation. Ideally, you should have your doctor or genetic counselor go over the results with you.^{[15]XResearch source}
- Even if you undergo a commercial test, you may want to ask your doctor if they’re willing to look over and discuss the results with you.
3
Keep your results in perspective as you plan your future. Depending on the type of testing you undergo, you may feel like the results you receive have completely determined—for good or bad—the future course of your life. It’s important to keep in mind that genetic testing deals in probabilities, not certainties, and that the results should be used as helpful information, not as the final word on your future.^{[16]XResearch source}
- For example, if testing determines that you’re highly likely to develop a certain condition, that doesn't mean that you absolutely will. It also doesn’t mean that there’s nothing you can do to reduce your chances of developing the condition.
- In addition to talking to your doctor and genetic counselor about your results, you might also benefit from talking to a mental health professional. They may be able to help you put the results in the proper perspective.
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