When It Comes To Genetics, Knowledge Is Power

Families share a lot of things: holiday traditions, favorite foods, a passion for a specific sports team, and yes, genetics. 

While we mostly think of genetics in terms of predisposing members of a family to a certain hair or eye color — or perhaps in terms of researching genealogy — genetics can also play a huge role in a family’s predisposition to cancer and other diseases. 

In 2015, I learned this firsthand after receiving an atypical cancer diagnosis. Immediately, my genetics were called into question, and it was at this time that I became aware of the importance of genetic counseling. 

BUILDING A FAMILY PEDIGREE

Although a relatively new field, genetic counseling is booming. According to Page Kanopsic, a nurse practitioner with Medical Oncology at St. Mary’s Hospital in Grand Junction, genetic counseling and testing is important as a diagnostic and preventative tool for people with cancer-causing genetic mutations. 

“The field of genetics is exploding with next generation sequencing,” she explains, adding that the demand for genetic counseling is far outpacing the availability of genetic counselors. 

Kanopsic, who is trained in Genetic Cancer Risk Assessment, is currently the only medical professional in Western Colorado providing high-quality genetic counseling, although Community Hospital is in the process of recruiting a new genetic counselor. 

Each week, Kanopsic sees about eight patients. Many of them were referred by their family doctor after noticing a suspicious family history, or after an atypical cancer diagnosis. 

A visit with Kanopsic begins with discussion and the creation of a multi-generational family tree, including the types of cancer various family members have had and the ages at which these cancers were diagnosed. Kanopsic is a cancer specialist, and while genetic mutations can cause other diseases and issues, she’s looking for the cancer trends and patterns among multiple family generations that raise red flags. 

If the pedigree looks suspicious, a patient may be referred for genetic testing, with the goal of identifying inherited genetic changes before cancer develops. If a genetic mutation shows up, a tailored cancer prevention and screening plan can be created for each member of the family with the mutation. 

Kanopsic stresses that the incidence of genetically-based cancers is relatively low, even among families with mutations. Cancer-causing genetic mutations are autosomal dominant, meaning that children have a 50% chance of inheriting the mutated gene. 

Among the general population Kanopsic shares that, “It’s not the vast majority of disease. Just 5-10% of all cancers, and 10-15% of breast cancers, with some studies showing that about 10% of the total population carries a harmful genetic change.” 

In the case of my family, we have something called Lynch Syndrome, which occurs in about one in 300 people worldwide. Lynch Syndrome causes a predisposition to colon cancer and gynecological cancers, among others. 

WHEN IT’S TIME FOR TESTING

Regarding genetic testing, don’t be fooled. While some direct-to-consumer tests claim to provide health information, the testing they do is not validated for clinical use, nor is it thorough. The outcome can be misclassification of genetic results and significant false positives, of up to 40%. While these tests may be fun for finding out that your family heritage, that’s their limit. 

Instead, medically-valid genetic testing is done at several specialized laboratories throughout the U.S., with samples coming in from across the world. 

Generally, results are returned to Kanopsic within three to four weeks. 

“After I get the results, we schedule a consultation,” she explains. “If there is a mutation, we have a longer conversation about specific genetic changes and what we can do for screening and prevention.” 

Referrals to specialists are often a part of this, and Kanopsic provides information for family members, which helps to identify additional at-risk individuals.

WHY FIND OUT

When I was diagnosed with cancer and then Lynch Syndrome, some within my circle shared that they would be reluctant to have genetic testing. Their thought was that they wouldn’t want to know, as it might make the future look scary. 

But as a knowledgeable friend, who is also a surgeon, pointed out, “Forewarned is forearmed,” or put another way, knowledge is power. 

Kanopsic agrees. By following the advice of a genetic counselor and sticking to a tailored screening and prevention plan, people with known genetic risk can remain healthier and even avoid cancer in some cases. 

“The data is growing,” she says. “People who are aware of their carrier status and understand their risk are more proactive about their health … In the long run, they do better.” 

Originally published in the Spring 2021 issue