Genetic testing importance and result types

Navigating genetic test results is best done with an expert who can explain what they mean.

By: Ashley Schwab .

genetic testing requires someone to explain the results
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Genetic testing results are personal, impactful and can be complicated to comprehend. This is why genetic specialists, like genetic counselors and geneticists, are an important part of the process. They help explain results as well as the effect on life and health.

“Most of the time, there are a handful of red flags that indicate genetic testing could be helpful,” explains Megan Bell, a genetic counselor at Sanford Health. “Genetic testing isn’t appropriate for everyone, and therefore a conversation with a genetics professional is important.”

Genetic testing may be considered for a vast number of reasons. Some reasons are a child experiencing developmental delays, a condition running in the family, a couple with problems getting pregnant. But for each, patients are searching to confirm a diagnosis, a carrier status, an increased risk for a genetic condition, or the effectiveness of medication due to genetics (pharmacogenetics).

Types of results

While patients may expect to get a positive or negative, the results are not always so clear. Patients can receive a:

  • Positive
  • Negative
  • Uninformative
  • Variant of uncertain significance (VUS)

“Genetic testing is different than most other lab tests, and the results can be more complicated.  Sometimes a result is uninformative because we still haven’t been able to determine the genetic cause of the condition. Therefore, the cause may not be genetic. It may be caused by a different genetic variant that wasn’t tested, or something genetic that health care hasn’t learned about yet,” Bell says.

“For example, if we test you for a BRCA variant due to your mom having breast cancer but do not know if your mom had a BRCA variant, that result could be uninformative because there are many factors that impact breast cancer risk.”

Bell continues: “The result would be a true negative when we know the actual genetic cause of a condition. Like if a mom does have a gene variant, we test the family for that gene variant. If the results say the patient does not have that gene variant, the result is negative. The difference here is we know what we are looking for, and we can determine a definite answer for the patient.”

A VUS found a variant. Current knowledge is unsure if this variant is harmless. When this happens, they encourage patients to follow up with a geneticist or genetic counselor for a reevaluation every few years.

Now what?

Our knowledge of genetics is constantly changing, so there is always a reason to stay in communication with your geneticist or genetic counselor. We are continually analyzing more genes. There may be changes in recommendations and testing as we learn more.

So even if you get a negative, uninformative or VUS result, it’s important to keep in contact with genetic specialists. You should let us know about family history and other changes.

To learn more, call (605) 312-GENE or attend “Now What? Knowing How Your Genetic Test Results Impact Your Health” on Tuesday, Nov. 13 at 7 p.m. at the Sanford Imagenetics Courtyard in Sioux Falls, South Dakota.

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