Article by Shannon Wieloch

The availability of genetic testing has exploded. You hear about it on television, the radio and the internet. Family members are verifying age-old stories of their ancestry. Co-workers are talking about the genes that predispose them to weigh 12% less than average.

With everyone doing it, a consumer may think, “Well, why not? It’s so simple.” Before grabbing a DNA kit, here are a few things to consider.

“Intended for clinical/diagnostic use or not intended for clinical/diagnostic use?” In the world of genetic testing, that is the distinction that needs to be made.

Genetic tests that are intended for clinical/diagnostic use are ordered by a physician. The results are then used to direct a patient’s medical care.

Genetic tests that are not intended for clinical/diagnostic use can be purchased directly by anyone, depending on the state in which they live. These tests generally fall into two groups:

1. Non-health testing may include information such as ancestry or are intended for entertainment purposes.
2. Health testing results contain information that may impact a person’s health and well-being. These tests can assess disease risk, potential risk to have a child with certain genetic conditions (carrier screening) or gene-drug interactions (pharmacogenomics).

As the name of the latter implies, the results from genetic tests that are not intended for clinical/diagnostic use are not intended to direct a person’s medical care. If a risk is identified, a genetic test that is intended for clinical/diagnostic use may be warranted.

For the sake of this blog post, we will focus on genetic tests that are not intended for clinical/diagnostic use.

Many companies offer these tests as DNA analysis can be conducted on a mail-in saliva or cheek swab sample. No laboratory visit is required.

Some companies don’t require a health care provider to order the test. Examples include 23andMe, Ancestry and National Genographic. Other companies require a physician’s order and contract with clinicians to review and obtain these orders. Examples of such companies include Mayo Clinic GeneGuide and Color.

Consumers are often notified through email when their results are ready and can then view them by logging into the company’s portal. Depending on the company, a genetic professional, such as a genetic counselor or medical geneticist, may be available to answer questions about genetic test results.

Of note, due to the sensitive nature of some results, consumers may wish to “opt out” of receiving results for certain diseases. An example of this is Alzheimer’s disease, for which prevention and treatment options do not currently exist.

Though not intended for clinical use, these tests may still identify the risk for a disease in a healthy person and thus may suggest the need to follow up with a genetic test that is intended for clinical/diagnostic use. This is especially true if a test includes information about how you may respond to different medications. Never change or discontinue your dosage in response to such test results. Consult with your provider to determine whether any changes to your medication would be appropriate.

So what are the benefits and limitations of genetic tests that are not intended for clinical/diagnostic use?

Benefits

• Provide meaningful health information that you may otherwise not qualify to receive from your provider. The reason for this is because medical practice guidelines direct what clinical genetic tests a provider orders for a patient. If you don’t meet the guidelines, your provider may not order the test.
• A better understanding of your genetics in a time when it’s increasingly being integrated into health care.

Limitations

• Though no test has the ability to find all disease risk, genetic tests that are not intended for clinical/diagnostic use tend to be less comprehensive than those intended for clinical/diagnostic use. These tests look for certain genetic changes (variants) in a specific set of genes. Because of this, a negative test result reduces your chance of having a genetic change. It does not make it zero. Thus, your risk to develop a given condition decreases, but it still exists.
• Many conditions have multiple genetic and environmental contributions. Examples include cancer, diabetes and heart disease. Knowing (a part) of your genetic contribution does not give you an exact risk to develop a condition.

8 important considerations about genetic tests that are not intended for clinical/diagnostic use

1. Think about what you will do with the information the genetic test results provide.
2. Recognize what the product does, and does not, test for.
3. Understand that neither the accuracy nor reliability of the test is 100%.
4. Be aware of how the company provides your test results and how they protect your privacy.
5. Find out if the company shares your data with third parties.
6. Look for a company that is clear about the benefits and limitations of their product.
7. Consider the company’s credibility. Does its laboratory have certifications from Clinical Laboratory Improvement Amendments (CLIA), College of American Pathologists (CAP) and/or American Association of Blood Banks (AABB)?
8. Schedule an appointment with a health care provider if you have specific concerns regarding current or ongoing medical issues you are experiencing.

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Shannon Wieloch, MS, LCGC is a Mayo Clinic genetic counselor supporting the Center for Individualized Medicine.

Tags: #direct-to-consumer genetic testing, #disease risk, #drug-gene interactions, carrier screening, center for individualized medicine, data privacy, diagnostic tests, education, Genetic Testing, mayo clinic, Mayo Clinic GeneGuide, pharmacogenomics, Precision Medicine, Rare diseases, undiagnosed diseases