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Genetic Testing: What You Should Know

Genetic Testing: What You Should Know
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Published on March 17, 2020

Genetic testing done by medical professionals serves several purposes:

  • It can determine if you are a carrier of a specific gene mutation that increases your risk of certain types of cancer.
  • For patients who have received a cancer diagnosis, genetic testing can help oncologists determine which treatments are likely to be the most effective. This is sometimes called personalized treatment because it’s based on a person’s specific gene expressions.
  • During a patient’s cancer journey, genetic testing may be done intermittently to assess whether genetic mutations have occurred and additional (or different) treatment may be needed.

Consumer-initiated genetic testing can in some cases help patients learn about their unique health and fitness levels, although consumers using at-home tests should proceed with caution as we detail below. 

Genetic Test Results: Now What?

Genetic testing invites the question, “What do I do with this information?” Jane Berkman, age 51, with a family history of ovarian cancer was recommended by her doctor to have genetic testing for the BRCA mutation. This gene mutation increases one’s risk for breast cancer and ovarian cancer. Berkman tested positive for the BRCA1 gene and she chose to have a mastectomy as a prevention strategy. During her surgery, early-stage cancer was detected, which was not seen in a mammogram. Jane benefited from learning her gene mutation status before the cancer spread. Read her full story here. 

For other gene mutations, a wait-and-see approach to treatment may be an option—but again, the treatment approach is dependent on the gene mutation itself. Talking with genetic counselors, such as Monica Giovanni, MS, CGC, can help to guide you through the process and what the results may mean so that you can make an informed decision about next steps.

In this videopatient advocate Nancy Raimondi, who has multiple myeloma explains how her treatment plan changed from when she was originally diagnosed, and why she credits genetic testing for her minimal residual disease (MRD) negative status.  

What About Home-Based Tests?

The direct-to-consumer testing kits appear to offer insight into health risks for people to watch out for,  but the concern is twofold: These tests are not comprehensive, possibly offering false hope, and the results may not tell the whole story about your health. The last thing you want is more worry, but you do not want to have a false sense of security either. Additionally, if the results show a high risk for disease, this information would be better delivered by a medical professional with a next-steps approach, rather than mail-delivered without an evidenced-based treatment plan.

Genetic Discrimination Can Happen

Although genetic testing can help you know if you carry certain mutations, it can also put you at risk for genetic discrimination—when an employer or insurance company treats you/charges you differently based on your gene mutation status. Fortunately, there is a federal law—the Genetic Information Nondiscrimination Act (GINA)—that is designed to protect people from genetic discrimination.  There are exceptions—life, disability or long-term care insurance are not protected.

People with a family history of cancer should ask their primary care doctor if they should get genetic testing. Cancer prevention, diagnosis and treatment requires collaboration between you and your medical team. Your best bet is to work with your trusted medical advisors to conduct appropriate testing, and decide together with loved ones, about what next steps are right for you. 

~Lauren Evoy Davis


Please remember the opinions expressed on Patient Power are not necessarily the views of our sponsors, contributors, partners or Patient Power. Our discussions are not a substitute for seeking medical advice or care from your own doctor. That’s how you’ll get care that’s most appropriate for you.

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