The Pros (and Cons) of Genetic Testing

Genetic testing looks for specific, potentially harmful hereditary changes, scientifically known as "genetic variances," in one's genes to provide a greater understanding of their overall health. This is particularly helpful when trying to identify a person's inherited cancer risks.¹

About 20 to 25 percent of women diagnosed with ovarian cancer have a hereditary tendency to develop the disease.²

Genetic testing for ovarian cancer

The BRCA1 and BRCA2 gene mutations are fairly well-known and common among gynecological cancers. But other hereditary conditions, such as Lynch syndrome, can also be linked to ovarian cancer.

At best, genetic testing can offer a sense of relief from doubt and uncertainty. It provides clarity and information that can help a person make more informed medical and lifestyle choices that could potentially benefit their quality of life and curb their possible risk of developing cancer – though this is never guaranteed, of course. It's important to note that whether or not a person develops a disease is not determined by genetics alone.¹

Knowing your genetic history and personal risk of cancer can also help influence proper screening methods and thus earlier detection, which ultimately increases the chances of a positive prognosis. What's more, results of genetic testing could potentially help patients make more knowledgeable decisions regarding what steps in treatment they should take. When combined with family history and other medical results, it can potentially support a clinical diagnosis and the development of a personalized treatment plan.¹

My experience with genetic testing

While my oncologist was particularly concerned about possible genetic factors given that I was diagnosed at such a young age (29 years old), he referred me to a genetic counselor a few months after my diagnosis.

The counselor and I evaluated my family tree and reviewed each family member with a history of cancer, as well as their specific type of cancers, age of diagnosis, prognosis, and outcome.

Fortunately, my multigene panel of DNA testing showed negative results across the board. This means out of a total of 84 genetic markers currently proven to be linked to ovarian cancer, I did not test positive for any of them.³

I'll admit – this was a major sigh of relief for myself and my loved ones, particularly my family members. But now I am even more confused about how I was diagnosed with advanced-stage ovarian cancer, especially at such a young age.

Results may vary

While receiving genetic testing is mostly beneficial, in my opinion, there can also be limitations. One of the major downsides of DNA testing can be the high cost. No doubt, it can be costly and is not always guaranteed to be covered by health insurance providers. It's always best to contact your health insurance company before receiving testing in order to confirm coverage. This will often need to be requested by a medical provider.⁴

On the other hand, a positive test could cause additional unnecessary stress and anxiety. Results can also return inconclusive or showing "unknown variance." An unknown variance, or a variant of uncertain significance (VUS), is a variation in DNA that has an uncertain or unknown impact on health. This essentially means that the patient does not necessarily have a greater chance of developing a specific genetic condition. But over time, the medical research community will presumably be able to identify new evidence about each particular variance, and, eventually, the classification may be updated to "benign or likely benign," or alternately, "less commonly pathogenic" to "likely pathogenic."⁵

Left in limbo

But say you are like me, and you receive a fully negative panel of results. Then you are still left wondering how on Earth this could have happened in the first place. However, it's important to remember that even though I had no reportable genetic variants identified by this particular analysis, I may still be at risk for other certain medical conditions dependent on factors like family history, genetic causes not evaluated by this particular genetic test, or other environmental influences.

It's also relevant to note that your family members have their own unique genetic composition. If cancer seems to run in your family, it might be worth considering looking into genetic testing.