Active Living

Digging Deep for Answers

Genetic Counseling Empowers Patients to Take Charge of Their Health

People with a strong family history of cancer often live with a sense of foreboding and dread that they, too, will one day be diagnosed with cancer. If knowledge is power, genetic counseling is certainly one powerful means of helping patients assess their risk and make informed healthcare choices.

Knowing whether you have inherited a genetic mutation that could increase your risk for certain types of cancer can certainly help you understand your level of risk and take action accordingly,” says Katelyn Blondino, MS, a genetic counselor for Sentara Martha Jefferson Hospital and Sentara RMH Medical Center.

Being proactive about your risk, Blondino notes, ultimately can save your life.

What is Genetic Counseling?

Genetic counseling is a powerful tool that can help people assess their level of cancer risk and take proactive control over their health. Patients with a strong personal or family history of cancer often choose to meet with Blondino to assess their risk and explore cancer screening or testing options. During these meetings, Blondino typically will first take a detailed personal and family medical history, in order to cross-reference the information to see who else in the patient’s family might have similar symptoms or risks. This gives her some idea of whether or not any cancer in the family could be hereditary, rather than caused by environmental factors.

“Only 5-10 percent of all cancer is hereditary,” Blondino notes. “So it’s important to analyze all aspects of a patient’s personal and family history to pinpoint which families are at high risk for an inherited genetic mutation.”

With high-risk patients, Blondino also may use computer-based models to analyze the patient’s personal and family history. These statistical models estimate useful information, including lifetime risks for breast cancer and chances that a patient may have an inherited genetic mutation.

Depending on the patient’s personal and family history, Blondino may recommend that the patient consider genetic testing, which can be a useful tool for individuals looking to get a more accurate risk assessment. Genetic testing, which is never required, consists of a simple blood test that is sent to a medical laboratory for analysis. Results typically take two to three weeks to return.

Once the test results come in, Blondino will sit down with each patient and discuss any implications the findings may have for the patient’s cancer risk, options for medical management and preventive screening they may wish to pursue, and any potential impact on health risks for the patient’s family members.

“Genetic testing can be very expensive,” says Blondino, “so part of a genetic counselor’s job is to identify which patients meet National Comprehensive Cancer Network guidelines for recommended genetic testing. That way, it is more likely for a test to be covered by insurance companies, and we can help to avoid any chance of financial barriers for patients.”

Blondino provides patients with all of the most up-to-date options available to them. “My goal is to prevent patients from being in the dark,” she says. “Some people want to know more about their genetic information and how that plays a role in their diagnosis or family history. But some people are more comfortable not knowing that information, because sometimes genetic information can be complicated. I like to speak with my patients and really assess what information they’re seeking and what they would do with that information. If it would be of benefit to them personally and medically, then I am happy to facilitate the process.”

In addition to face-to-face counseling, Blondino offers patients educational materials to take home. She points patients to reputable websites offering accurate information to help them continue learning about their findings. She also provides her patients with the option of engaging with online and in-person support groups specific to certain hereditary cancer syndromes. These groups can help patients connect with other patients in similar circumstances, share information and develop supportive relationships.

Clearing Up Misconceptions About Genetic Counseling and Testing

Part of Blondino’s job deals with addressing misconceptions about genetics and genetic testing. One common misconception is that genetics determines one’s destiny. Some patients think that if their test reveals a genetic mutation, then it’s an absolute certainty they will develop cancer. “If a genetic mutation is indeed found, that patient’s risk for cancer may be elevated, but it’s not a guarantee that they will develop cancer,” Blondino explains. “There are many people who have genetic mutations who never develop cancer.”

On the other hand, some patients mistakenly think that if they test negative for certain genetic mutations, their risk for cancer is eliminated. “We have come a long way in terms of genetic testing and cancer, but we have more than 25,000 genes in our bodies, so there is still much to uncover.” Blondino adds. “A negative result is reassuring, but it does not eliminate your baseline risk of developing cancer at some point in your lifetime.”

These misconceptions often arise due to the difficulty involved with separating genetic and environmental or lifestyle risks. “An example of lifestyle risks for cancer would be someone who smoked heavily for many years and went on to develop lung cancer,” Blondino notes. “These cases are likely due to their personal history of smoking, and are likely not hereditary.”

Another common misconception occurs when patients mistake genetic counseling for psychological therapy. Genetic counselors aren’t therapists, but instead educate patients and their families about their risks for developing certain diseases, providing patients with enough information to make informed decisions, with the aid of a physician.

“I do spend a considerable amount of time discussing information with patients and incorporating their psychosocial needs,” says Blondino. “But if a patient or family thinks they would benefit from additional psychological counseling outside of our appointment, I will typically refer them to a local psychologist so they can get the best, most consistent care in that regard.”

Finally, genetic counselors do not make ultimate decisions for patients.

“I provide information, but I never tell patients what they should or should not do,” Blondino notes. “My role is to empower patients to make their own informed decisions, because genetic testing can have complicated implications for themselves and other family members.”

Benefits of Genetic Counseling

Genetic counseling and testing may not be helpful or necessary for patients who do not have a strong family or personal history of a hereditary disease. But in cases where the risk is high and there are genetic indications for concern, genetic counseling can be a lifesaver.

“For example, when a woman has a high risk for breast or ovarian cancer, she may decide, based on her family history and genetic testing results, to have preventive surgery,” explains Blondino. “But this course of action won’t be best for every patient. For those who wish simply to follow up with increased screening, their physician will keep a close watch, so any cancer that is detected can be caught at an early stage when it’s more easily treatable.”

People often associate genetic testing exclusively with testing for cancer risks, but Blondino points out that genetic counseling and testing are useful in a number of areas of health care today, including prenatal care, pediatrics, cardiology, neurology, craniofacial care and biochemical care.

“The most important take-away regarding genetic counseling and testing is that it enables patients and physicians to stay a step ahead of inherited genetic conditions,” says Blondino. “It helps patients explore all the options available to them, which can ease fear of the unknown when they’re faced with a new diagnosis.”

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