Research vs. Clinical Genetic Testing: Clearing Up Confusion

Michigan Medicine genetic counselor Rajani Aatre, M.S., M.Sc., says her patients are sometimes confused about the difference between research genetic testing and clinical genetic testing.

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"When I discuss clinical genetic testing with patients," she says, "they often tell me they're already involved in genetic testing. What they're actually participating in is research genetic testing."

There are big differences between the two, she says, starting with the purpose of the tests and with whom test results are shared.

Research genetic testing

With research genetic testing, scientists are seeking volunteers who will help them gain in-depth knowledge about genes — how they work and how they affect genetic conditions on a population level.

"The information derived from research doesn't make it into the clinical arena and can't be used to make an individual diagnosis or added to an individual's medical records," Aatre says. "Research genetic testing doesn't directly benefit the individual patient but is used to collectively benefit a much larger group."

Most people are more than happy to donate a sample of their DNA to a research study, says Aatre. "In most cases, they can follow the study and get general updated information about it. Research studies can be a one-time test or can go on indefinitely with different participation levels."

A research study might require a participant to travel to a research center for evaluation or treatment. Other studies might involve completing a questionnaire or survey or collecting a DNA sample (from blood, saliva, skin or other tissue) that can be sent through the mail.

A biobank or biorepository allows people to submit DNA samples that researchers can use. At Michigan Medicine, for example, the Cardiovascular Health Improvement Project enables researchers to learn more about people with aortic diseases and other cardiovascular-related conditions through collecting and analyzing blood and clinical data.

Clinical genetic testing

On the other hand, clinical genetic testing provides information about an individual's diagnosis or treatment. This information can also be used to identify and guide clinical care of family members, a key component of genetic counseling and testing. 

SEE ALSO: What to Expect from Heart Disease Genetic Counseling

It is done specifically for an individual and targets the coding part of the gene that is relevant to a particular disease. This "involves reading a DNA sequence to determine if there are any variations from the known normal pattern that fits an individual's clinical picture and can clarify a diagnosis and/or clinical management," Aatre says.

"Clinical genetic test results can be linked back to the individual and appear in their medical records," she adds. "Patients can use the results of their clinical testing to make decisions about their health condition."

Take the example of the Aleo family. Through genetic testing at Michigan Medicine, eight members of the family tested positive for a genetic defect that can lead to deadly aortic disease. Today, some family members have had treatment, while others remain under regular surveillance to monitor their conditions.

The value of both

Some research studies provide participants with genetic research results. "However, these results should be verified through a certified clinical genetic testing laboratory as accuracy may vary and interpretation depends on individual circumstances," Aatre says.

Only clinically confirmed research results should be used for medical management and for testing at-risk relatives.

Aatre encourages patients to appreciate the value of both types of genetic testing. "While research genetic testing benefits the greater good, clinical genetic testing is valuable to the individual and his or her family. But it's important to know the difference between the two."

For more information or to make an appointment for genetic counseling or testing at the Frankel Cardiovascular Center, call 888-287-1082.