Genetic screening can provide vital health information

June 12, 2019 | by Edward-Elmhurst Health

Your DNA can provide important information about your health.

Genetic testing examines your DNA makeup, or your body’s chemical instructions inherited from your parents.

Testing can be done on a sample of blood, hair, cheek cells, urine, amniotic fluid or other body tissue and can reveal changes, or mutations, in your DNA that may cause illness or disease.

Results, reviewed with your doctor or genetic counselor, can provide more insight for:

  • Families with a history of cancer other disease
  • Persons who are adopted and want more information about their genetic makeup and risk for disease
  • Couples trying to start a family
  • Diagnosing disease or specific conditions
  • Helping doctors determine a treatment plan

In recent years, genetic tests have advanced and not only look at the high risk, more well-known markers for disease but also some of the lesser known, medium-risk genes, says Elyse Weber, a certified genetic counselor at Edward-Elmhurst Health.

In women, for example, these tests can be helpful in cases where there is a history of breast cancer but prior genetic tests have not shown the presence of BRCA 1 or BRCA 2, the most common genes linked to breast cancer.

“If we can identify a mutation in a moderate risk gene it can provide peace of mind in those individuals to know where it’s coming from,” Weber says. “What’s changing is we can use the genetic testing to go back to those families who don’t have an answer and try to get an answer for them so they have a better pathway forward.”

Though positive test results can be upsetting, Weber says she tries to help patients see the silver lining and the role those results play in determining if screening tests, such as mammograms or MRIs,  are needed at an earlier age for surveillance or early detection.

Test results can also empower patients to better advocate for themselves with their physicians and ensure that patients are not undergoing unnecessary screening or testing, she says. A positive test result also does not guarantee you will develop that condition, she notes.

Though some may not want to know what their genetic markers tell them about a disease they have, Weber notes she has often had patients who have previously been diagnosed with cancer return for genetic testing at the urging of their children.

“The next generation looks at (genetic testing) as a tool their parents didn’t have that they can use so they don’t have to go through what their parents went through with their cancer diagnosis,” Weber says.

With the advances in genetic testing, Weber notes that anyone who has undergone clinical genetic testing within the last five to seven years should consider being retested. She also recommends patients keep in touch with their genetic counselor and update them on an annual basis about any changes in their health to determine if additional testing is needed.

Learn more about genetic counseling at Edward-Elmhurst Health.

Related blogs: 

Your genes and your health: 5 FAQs about genetic testing

What does the future hold for your health?

Why you should know your family medical history


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