genetic testing AND YOUR MEDICAL CARE

WORDS : TARA EKREN PHOTOGRAPHY : PROVIDED BY ESSENTIA HEALTH

Whenreviewing family medical history, a woman and her doctor will talk about the prevalence of cancer, whether personal or in other family members. Has any family member, male or female, been diagnosed with breast cancer? Does ovarian or uterine cancer come up at all? What does other family members’ cancer diagnoses have to do with you?

Cancer is a genetic disease. The National Cancer Institute explains that cancer is caused by changes to genes that control the way our cells function, especially how they grow and divide. Genetic changes that promote cancer can be inherited from our parents, or they can be acquired during one’s lifetime as the result of errors that occur as cells divide, or from exposure to carcinogenic substances that damage DNA.

“If there is prevalence of breast cancer or other reproductive organ cancers that run in your family, you might benefit from genetic testing,” explains Cathleen McCann, a genetic counselor at Essentia Health. “Genetic testing is a medical test that identifies changes in chromosomes, genes or proteins. The genetic test can confirm or rule out a suspected genetic condition or help determine if a person has a higher chance of developing or passing on a genetic disorder.”

Of particular interest for women is knowing if you have a mutation of a BRCA gene or breast cancer gene. There are many different genes that have been found to impact a per- son’s chances of developing breast cancer. It is important to note that every human has both the BRCA1 and BRCA2 genes. The genes do not actually cause breast cancer. The National Breast Cancer Foundation explains that the two genes normally play a big role in preventing breast cancer. They help repair DNA breaks that can lead to cancer and the uncontrolled growth of tumors. Because of this, the BRCA genes are known as tumor suppressor genes.

However, in some people, these genes don’t work properly. When a gene becomes altered or broken, it doesn’t function correctly, called a gene mutation. These gene mutations cause disease.

What will genetic testing tell me? What won’t it tell me?

Genetic testing will tell you if you are at an increased risk for certain genetic disorders. Examples of genetic disorders include cancers, Huntington’s Disease, muscular dystrophy, and Down syndrome, to name a few. Genetic testing will tell you if you have a genetic mutation.

What genetic testing generally won’t tell you is whether you will be afflicted with a genetic disorder at some point in your life. Unfortunately, genetic testing is not a crystal ball.

Using cancer as an example, if you are tested and deemed to have a higher than average risk for a certain type of cancer, there may be preventative steps you can take if your high risk lies within an “actionable” genetic mutation. This might include a mastectomy and reconstructive surgery, beginning a course of medication or another treatment. A patient with a higher risk of cancer will likely have greater surveillance of their health to try and diagnose any cancer in an early stage of development.

Genetic testing details can also be used in the treatment of some kinds of cancers. Doctors can develop treatment specific to the genetic structure of a patient’s cancer.

Not a decision to be taken lightly

Genetic testing is not a decision to be made lightly. It’s important to think about why you are considering genetic testing. What are the pros and cons? Who are you trying to find information for? Yourself? Future generations? Are your affairs in order, including adequate life insurance, and a support system to count on during treatment or disease progression? These are all things that a genetic counselor will discuss with you at your initial visit.

Federal law prohibits denial of medical insurance due to genetic factors, but there is no law in place for things like life insurance or long-term disability. While you likely won’t lose these benefits if you have them prior to genetic testing, depending on test results, you may not be able to get additional coverage.

Other considerations for women

Beyond cancer, genetic testing may be used in recurring pregnancy losses. In a situation like this, both mother and father would be tested. McCann points out, “Generally, there is about a 40% chance of a genetic issue with the woman, a 40% chance of a genetic issue with the male and a 20% chance of an issue when the two come together.”

There may also be situations where testing children is necessary. Again, when a suspected genetic issue is possible, the mother, father and child will be tested in order to determine if a genetic mutation is hereditary and may affect future reproduction.

Where to get genetic testing

Genetic testing is available at Essentia HealthFargo. Cathleen McCann, certified genetic counselor, sees patients by referral only. If you think genetic counseling might be useful, talk with your primary care physician. You can also visit essentiahealth.org for more details on genetic testing and counseling.