Terry Cole doesn't relish having to undergo a colonoscopy every year. But he knows that the alternative — waiting any longer — could cost him his life. Recently, through genetic testing, he learned that he is predisposed to colon and other cancers.
"The earlier doctors catch it, the more likely I am to survive. That's all the information I needed to motivate me to get yearly colonoscopies," says Cole, 59, of Clarksville, Tenn. "I'm grateful that I was able to be genetically tested and that based on the results, my doctors and I now know to watch me closely."
Cole is among the beneficiaries of the Family Cancer Risk Services program at Saint Thomas Health in Nashville, Tenn. Since February, the program has been providing genetic screening to help patients concerned about hereditary conditions to know their level of risk. Susie Caro, a nurse practitioner who specializes in cancer genetics, leads the program at Saint Thomas, which is part of Ascension Health. Saint Thomas is the regional parent of four Tennessee hospitals.
Understanding the risks
A large part of Caro's job is helping individuals like Cole to better understand his risk — and his children's risk — of developing cancer, based on a number of factors.
The reason Cole underwent genetic testing has a lot to do with his family history as well as his own personal history. Cole's father died of colon cancer at the age of 52. Because of that, Cole underwent his first colonoscopy at 40. When the results came back negative, he was told to have another one in five years, which he did.
At age 50, the results from his colonoscopy were once again negative. But two years later, he started bleeding heavily from hemorrhoids. His wife, who is a nurse, insisted he go back to see his doctor. He underwent another colonoscopy.
"That's when the doctors came back and said we have bigger fish to fry than hemorrhoids," Cole recalls. "They were able to remove a malignant Stage I tumor that hadn't yet penetrated the wall of the colon and hadn't gotten into the lymph nodes.
"I was very lucky," he says. "If I had waited another five years, it surely would have been Stage IV colon cancer."
In 2008, Cole's surgeon, Dr. William J. Harb at Saint Thomas' Baptist Hospital in Nashville, asked Cole if he would be interested in undergoing genetic testing to see if he had a genetic predisposition to colon cancer. The test (taken prior to the formal Saint Thomas gene testing program's debut) cost roughly $3,000, but because of Cole's family history and his own diagnosis, insurance covered the charges.
When the results came back, they were mostly negative, with one genetic abnormality that was of uncertain significance. Then, several months ago, Harb contacted Cole again to say that based on new information on genetics becoming available in the medical field, the doctor needed to see Cole right away. When they met, the doctor told Cole he had Lynch syndrome, a rare inherited condition that increases the risk of colon cancer and other cancers. Only an estimated 3 percent of colon cancers can be attributed to Lynch syndrome.
While most people have about a 6 percent chance of developing colon cancer at some point in their lives, people with Lynch syndrome have about an 80 percent chance, many before age 50, according to the Mayo Clinic. Today Cole is "under surveillance" and will have yearly colonoscopies.
Forewarned is forearmed
"Genetic testing for colorectal cancer is a critical part of the modern treatment of colorectal cancer," says Harb. "One of every four patients with colorectal cancer has a family history of the disease. When physicians and medical providers overlook the genetic impact of colorectal cancer, we miss the opportunity to prevent future colon cancer in these patients. However, we also miss the opportunity to prevent this deadly disease in other family members (by making them aware of) the inherited component."
Specific cancer susceptibility genes are linked to several types of cancer, nurse practitioner Caro explains, including breast, ovarian, colon, uterine, endocrine, prostate and pancreatic cancers. "Up to 10 percent of certain cancers are hereditary and involve an inherited gene mutation that puts someone at a higher risk of developing that cancer," she says. By reviewing family history and personal medical history, genetic testing makes good sense for certain people, she says.
"It's risk assessment," adds Caro. "If your mother had breast cancer at 45, what does that mean to you? It's critical to look at the whole picture. Then you make a decision: What's appropriate screening based on family history?"
Caro says people such as Cole are ideal to start with for screenings because he already had an early bout with cancer and he had the family history. "If you're going to facilitate a specific genetic test, it's best to do it in a person who has been affected. It makes much more sense than testing the unaffected brother or sister."
Making informed decisions
Dr. Catherine Stallworth, who specializes in physical medicine, rehabilitation and integrative medicine at Baptist Hospital, adds: "Having (cancer genetic services) available to patients is very important for several reasons. As we are learning more about the genetic code, we are discovering that certain gene patterns will predispose certain people to different types of cancer. While having these gene patterns does not mean you will definitely get cancer, it does let the patient and physician know to be more aggressive about screening. Beyond screening, some people identified as being at risk for certain types of cancer even choose prophylactic surgery to reduce their risk of developing cancer."
When Cole learned he had Lynch syndrome, he spoke to his three grown children and encouraged each of them to be tested. Recently his youngest, Merritt Cole, 24, met with Caro for about two hours that's typically how long she takes with each patient. She reviewed Merritt's family and personal medical history, drew a family tree, applied mathematical models, explained what it would mean for her if the results came back positive for Lynch syndrome and what it would mean if they didn't, and answered all of her questions.
Caro also explained that while there used to be significant discrimination by health insurers based on genetic information, passage of the Genetic Information Nondiscrimination Act in 2008 prohibits insurance companies from denying coverage to a healthy individual or charging higher premiums based solely on a genetic predisposition to developing a disease in the future.
Ultimately, Merritt decided to have her blood drawn for a genetic screen.
"It's kind of scary," says Merritt. "But I know I've done the right thing. Either way, it's a good thing. I'd rather know than not know and be able to be proactive when it comes to prevention and screening. Having the knowledge is important to me."
Caro explained to Merritt that if she does test positive for Lynch syndrome, she should strongly consider getting annual colonoscopies starting at age 25, rather than follow the otherwise recommended practice of waiting until age 50 for her first procedure. Caro also said a positive Lynch syndrome result would mean Merritt should get annual pelvic scans including ultrasounds and endometrial biopsies to check for uterine cancer, as she would have a much higher chance of developing uterine cancer at a younger-than-average age.
"The most profound benefit of risk assessment is the chance to prevent cancer deaths by identifying those patients at increased risk and offering measures to decrease risk or identify cancers earlier," says Caro. "That's a huge, powerful thing to be able to do. It gives us an amazing opportunity to reduce the loss of life from cancer.
"True, in some of the people we see, we don't get a clear answer. But at least they know where they stand."
Who should be tested?
According to Susie Caro, a genetics specialist at Saint Thomas Health, those who can benefit from genetic testing include men or women with a personal or family history of:
- Cancer diagnosis at younger than expected ages, for example: before age 50 for breast, ovarian, uterine or colon cancer
- Several relatives who have been diagnosed with cancer
- More than one cancer diagnosis in the same individual
- Ovarian cancer at any age
- A breast or ovarian cancer diagnosis in an individual of Ashkenazi Jewish descent
- Multiple colon polyps in an individual, or several relatives diagnosed with colon cancer
- A rare or unusual cancer diagnosis
- Specific diagnoses such as pheochromocytoma or paraganglioma (adrenal gland tumors), hemangiomas (vascular tumors) or medullary thyroid cancer
- A known cancer gene mutation or syndrome in the family
The National Society of Genetic Counselors lists genetic counselors online.
Ethical considerations for genetic testing
When considering whether to offer specific types of genetic tests to patients, ministry health systems and facilities should weigh the ethical implications, according to Ron Hamel, a CHA senior director of ethics. And, once such tests are made available, health care facilities should ensure they are counseling patients before and after the tests, he said.
Hamel said that when deciding what tests to offer, facilities should determine whether they will test for conditions for which there is no cure, nor treatment, nor preventive measures, such as Huntington's disease or early-onset Alzheimer's disease. If they do decide to offer such tests, they'll need to be clear about why they are offering those tests and what benefits patients would reap from knowing they will develop a progressive, debilitating disease or are susceptible to developing such a condition.
The facilities also will need to gauge how accurate and predictive the tests are and convey this to patients. Genetic counselors must be consistent in warning patients against false negatives on tests and apprise them of the possibility that certain conditions still can emerge despite a true negative test result on a genetic test.
They'll also need to define the criteria they will use to determine who will have access to the testing. For example: Will everyone have access, or only people who have certain risk factors, such as family history or racial or ethnic predispositions to a condition?
Facilities offering such testing will need to ensure they are offering psychological counseling in advance of the testing and sufficient support afterwards, to help people deal with the weight and implications of the test results. Hamel said patients likely will want to know what types of psychosocial supports they'll be able to access and what follow-up measures they'll be able to pursue in the event of a distressing finding.
For instance, facilities must plan how best to counsel patients who, on the basis of abnormal genetic results, may be considering preventive surgery, such as the removal of ovaries to preclude ovarian cancer. Hamel said facilities must be prepared to inform patients about the proportionality of the threat versus the promise of the preventive measure.
When it comes to testing for genetic markers related to cancer risks, "one can probably make a plausible case for its use," Hamel said. But, he added, "With some diseases for which this is no cure or preventive measures, presymptomatic and susceptibility testing almost seems cruel."
He noted that ultimately it falls to the individual patient to decide whether the potential benefits of a genetic test outweigh the potential psychological burden of discomforting test results. "That person will have to live with that knowledge," Hamel said.
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