Genetic Testing Reinforced Need for Vigilance

There are many reasons to decide to have a genetic test done or to not have it done. It’s an individual decision to find out whether or not you may have or be at risk for a genetic disorder. 

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For Karen Rufien, it was easy to say yes to genetic testing when Juhi Asad, DO, her surgeon at Lutheran Medical Center, recommended it. Rufien, 55, had just been diagnosed with breast cancer. She knew several cancers ran in both sides of her family and had been conscientious about both mammography and colonoscopy screenings. In fact, it was a routine mammogram that uncovered her cancer.

“I wasn’t scared to have the test done, like some people might be,” Rufien says. “I find it fascinating to gain this kind of information about my genetic background. In fact, the results confirmed a family history of breast, colon and prostate cancer.”

Rufien had a full panel of genetic tests, to analyze 25 genes that are known to be associated with hereditary cancers. She was found to be positive for a mutation in the CHEK2 gene, a relatively rare result that puts her at risk for breast and colorectal cancer. It’s also identified as a risk for prostate cancer. 

After a lumpectomy and radiation therapy for her cancer in September, Rufien is recovering well. Results of the genetic tests reinforced that she needs to be vigilant about regular screenings, since there is always risk for a recurrence or a different cancer. 

The results of her tests not only gave her good information to protect her health. It will assist researchers who work to uncover mutations through genetic testing, something that is also important to Rufien. Identification of a gene mutation in a person can also provide information for family members, so they can decide if they want to be tested to see if they carry the same mutation.

“Genetic counseling may be indicated for some family members,” says Amanda Cozart, a Certified Genetic Counselor with the Cancer Centers of Colorado at Lutheran. “Those in families that have significant amounts of cancer present within family members, young ages of cancer diagnoses, rare cancer types, such as ovarian cancer, or individuals with more than one primary cancer may benefit from the information that genetic screening can provide.”