CRMC unlocking the genetic clues to cancer

By Michelle Price
UCBJ Managing Editor

COOKEVILLE –Patients wondering if genetics plays a part in their illness no longer have to travel to Nashville or Knoxville to have that question answered thanks to the addition of Cookeville Regional Medical Center’s new genetic counselor, Ashley Cohen.

Cohen, MS, LCGC, is the new face of genetic counseling at Cookeville Regional. Cohen has spent the last three years working in genetic counseling in Atlanta, GA. She completed her undergraduate education at the University of Georgia with a Bachelor of Science in Microbiology and obtained her Master of Science degree in Genetic Counseling from the University of Alabama at Birmingham.

When Cohen’s husband was offered a teaching position at TN Tech, she approached CRMC about starting a genetics program in-house. A genetic counselor is a board certified, licensed healthcare provider who has expertise in assessing hereditary cancer risk, providing education on genetic testing options, as well as discussing implications, benefits and limitations of testing for the patient and their family members.

CRMC had offered genetic testing previously but to have the results explained and utilized in the patient’s treatment, it was necessary to travel to Nashville or Knoxville, where the wait for an appointment was often up to six months.

“It’s difficult for some patients in Cookeville and surrounding counties to travel to the bigger cities for genetic counseling and testing,” explained Cohen. “It’s a very good opportunity for me to be here to help those patients. The hospital, as a whole, serves 14 counties. And we know that five to ten percent of cancers are hereditary. So,that’s a lot of people in the area that have a genetic predisposition that we just haven’t found yet.”

About one in eight U.S. women – about 12.4 percent – will develop invasive breast cancer over the course of their lifetime, according to breastcancer.org. In 2018, more than 266,000 new cases of invasive breast cancer are expected to be diagnosed in U.S. women, along with 63,960 new cases of non-invasive breast cancer.

Cohen shared that her most common referrals are for cancer – either a personal history of cancer or a family history of cancer – to see if there could be a hereditary cause for the cancer.

Cohen explained, “ Genetic testing for hereditary cancers could be important for two reasons:  1) It helps establish the medical management recommendations for the patient. For example, a patient newly diagnosed with breast cancer might have genetic testing to see what kind of surgery is recommended, be it a lumpectomy or potentially a double mastectomy depending on the genetic test results, and 2) for family members – if there is a broken gene in the family, then other family members can be tested. If they have that broken gene then they can be proactive with their health. For example, if a woman comes in with a BRCA1 or BRCA2 gene mutation, they can then test her daughter who doesn’t have a history of cancer. If she also has the BRCA mutation then the doctors can recommend a change in her medical management, including increased breast screenings and removal of her ovaries.”

Cohen wants the availability of genetic counseling services to empower the women of the Upper Cumberland to take action on their personal or family history and determine what may be going on in their history.

“If a woman knows that there is a strong family history of breast cancer and hasn’t explored that too much previously, now might be a good time to meet with a genetic counselor to see if there is some genetic explanation,” explained Cohen. “It’s all about being empowered by the information we can get from the genetic testing and being proactive.”

Meeting with a genetic counselor does not mean that you have to do genetic testing. If a patient just wants to talk to the counselor about their family history, she is glad to do that also. There are some people who don’t know their family history, either because they aren’t in contact with them or they might be adopted.  For someone without a family history, Cohen would be glad to meet with the person and discuss the benefits and limitations of testing with them.

“There have been a few times where patients don’t know their history, or they are just curious, and we do the testing for them,” added Cohen. “It’s much better to meet with a genetic counselor who can go over the test results and tell you what a result actually means rather than to have results you don’t know what to do with. If there is a positive result (a broken gene), a genetic counselor can tell you, ‘Ok, now that we have found this, here are the steps we need to take moving forward’.”

A typical first visit to the genetic counselor would include reviewing the patient’s personal history and their family history.  Once the genetic counselor has completed her risk assessment, and she thinks that genetic testing would be recommended for them, then she goes into depth on the genetic testing options.

“There are a lot of testing options available,” explained Cohen. “There’s BRCA 1&2 for breast cancer, Lynch syndrome for colon cancer, and now there are 20, 30 and 80+ gene panels that can test for a variety of hereditary cancers.”

Cohen always leaves it up to the patient how much genetic information they want to know – do they want to know everything, or do they want to know information that is very well defined at this point.

“Cost should never be a barrier to having the genetic testing done,” Cohen emphasized.  “Genetic testing is much cheaper than most people assume.  It is covered by most insurance companies for those who meet medical criteria and for those wanting to do it without insurance coverage, there is a out-of-pocket option for $250.”

Cohen will collect the sample during the appointment in her office, whether a blood sample or saliva, and the hospital will send it off to the lab for testing.  Results will be sent back to Cohen, and she will call the patient in to go over the results.

After the patient meets with the genetic counselor and reviews their results, it is communication with the patient’s doctor that is most important so that everybody is on the same page.  That is why CRMC requires a referral– to continue the team approach.

“Breast cancer gets a lot of attention, but uterine cancer and Ovarian Cancer can have a genetic component also,” shared Cohen. “For ANY diagnosis of ovarian cancer there is an automatic recommendation to have genetic testing. Also, if a patient had uterine cancer in her 40’s, that is a young age of diagnosis, so genetic testing would be recommended.

“Our hope is by doing this testing, we can reduce the risk of cancer by recommending preventative surgeries. Now would be a good opportunity for women who have not necessarily taken that extra step to see if genetic testing could be beneficial. Now would be a good time just to meet with me.”

Cohen specializes in genetic counseling for cancer patients, but she has also worked with physicians from other disciplines like prenatal, preconception, cardiovascular and adult patients.

“Genetics have changed the medical field so much over just the past few years,” Cohen added. “Pharmacogenetics is studying a person’s genes to determine how well they will respond to a particular medicine. It is especially helpful information for prescribing anxiety, depression and ADD medications, so the physicians can determine what medications may or may not work for that patient.

“I’m very lucky to be here and to provide genetic counseling to the community.”

A physician referral is needed from a doctor to see the genetic counselor at The Cancer Center at Cookeville Regional. Visit www.crmchealth.org/genetics or call 931-783-2476.

 

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