November 14th, 2016

When a doctor refers a patient for a genetic evaluation, one of the first questions we get from the patient is “why does it matter?” After all, your DNA cannot change, right? So, why does a genetic evaluation matter?

There are a lot of reasons why a genetic evaluation can be helpful. Even though you cannot change your DNA, we can use the power of a genetic evaluation to help establish a more precise tailored risk of disease. You can then use that knowledge to adjust your lifestyle and screenings, which can drastically impact your risk of ever developing the disease.

We see many patients who are at risk for cancer. But what exactly is that risk? Is it a 99% risk of cancer? 1% risk? 50% risk? A genetic evaluation can help answer that question. Genetic evaluations factor in the patient’s medical history in conjunction with a detailed family history. Often the evaluation will include a discussion of genetic testing options that may further clarify the person’s risk for cancer. If someone already had cancer, it can help establish why they developed the cancer in the first place. Our job is never to force someone into genetic testing; instead, we emphasize the different ways that testing can impact the person’s care, including the benefits and limitations of the tests, and help the patients decide for themselves whether testing is the best option.

But genetic evaluations often reach further than just the patient sitting in our office. Often they can clarify risks for other family members. Many of our patients consider pursuing genetic testing as a way to give the gift of information to their brothers, sisters, and children. Imagine being able to warn your family of a strong genetic predisposition to colon cancer lurking in your DNA and encouraging them to test for it to see if they inherited the risk as well. If they did, they can start more rigorous colon cancer screening to catch it in an earlier, more treatable stage. If they did not inherit it, they can have the peace of mind knowing their risk is no higher than the general population. Sometimes genetic evaluations can even assist couples in making informed family planning decisions.

We encourage our patients to see genetic evaluations as empowerment and a great step towards improved health for them and their families.

About the author:

Anna Victorine, MS, CGC is a board-certified genetic counselor at Provenance Healthcare. She currently specializes in cancer genetics and personalized medicine. Appointments with Anna can be made by calling 702-478-2524.