Northwest Arkansas Democrat-Gazette
Genetic counselor seeks cancer roots
ROGERS — Most health threats come from outside the body — germs, viruses, toxins and such. Courtney Cook helps patients deal with attacks or weaknesses from within.
Cook is a genetic counselor, a master’s degree level expert in interpreting genetic test results for patients. Her specialty is oncology, the discipline focusing on cancer. She’s the third genetic counselor in Arkansas and the first working outside of the Little Rock area, according to Cancer Challenge, a local nonprofit agency.
Laboratories run genetic tests. Doctors analyze them. A genetic counselor such as Cook explains those results in context of a patient’s symptoms and family history. She gives expert advice in understandable language.
And, at least once so far, she may have solved the unexplained death of a child 21 years ago.
Marilyn Marshall-Miller of Joplin, Mo., was diagnosed with breast cancer in July 2016 — the third of three cousins and an aunt to develop it in a four-year period. Yet the usual test for the most common genetic link in such cases came back negative. Her surgeon wanted a more thorough check and recommended Cook by name, Marshall-Miller said.
Reviewing the family history, including the death of
Marshall-Miller’s child, Cook ordered another, different test. It showed Marshall-Miller has a very rare genetic anomaly closely linked to breast cancer in women and prostate cancer in men.
The anomaly can also cause a condition from birth called Nijmegen Breakage Syndrome. The condition stunts health and development in those born with it. The syndrome appears to have been the cause of death of Marshall-Miller’s daughter, Stephanie, in 1996 at 5 years old. Tissue samples taken from Stephanie, kept frozen for more than two decades, are being tested now to confirm, Marshall-Miller said Friday.
“For 20 years, I’ve wondered if I did enough,” Marshall-Miller said of the struggle to save Stephanie’s life since her daughter’s birth. The test Cook had advised, which found the condition, didn’t exist in 1996. The mapping of the human genome, a foundation for all such test, hadn’t been completed yet.
During a counseling session Nov. 30, Cook asked Marshall-Miller if she had a picture of Stephanie. “Always. It is on my phone,” Marshall-Miller said. “Courtney pulled up pictures of children of people with Nijmegen Breakage Syndrome, and they looked like Stephanie’s brothers and sisters.”
“I went to the chapel and cried,” Marshall-Miller said.
Then she called family and Stephanie’s pediatrician in Joplin who had also struggled mightily to save the child’s life. She cried too, Marshall-Miller said. After more than two decades, they have what appears to be an answer.
In other cases, a genetic counselor might see someone who’s going to one doctor for kidney trouble and also a skin doctor for facial polyps, Cook said. There’s an inherited illness that can cause those two conditions, she said. That same illness can lead to cancer. Her job would be to recognize the possible link and recommend the right test to confirm or disprove if the conditions are linked, all while keeping the patient and the patient’s doctors informed.
Different genetic tests look for different specific mutations, Cook said. Ordering the right test requires knowing quite a bit about the patient and the available tests, she said.
Cook has seen about 200 patients since she opened her office doors in September. Most appointments are an hour and a half long, she said, because she must carefully review family and personal history.
Insurance has covered the cost of genetic testing for about three-quarters of the patients she has seen, Cook said. About 10 percent of the remainder have paid less than $200, she said. Marshall-Miller also said charities such as cancer foundations will also help pay for such testing.
The counselor doesn’t always recommend testing, Cook added.
Cook received her degree from the University of Arkansas for Medical Sciences in Little Rock. Cancer Challenge looked for someone like Cook since 2010, Executive Director Erin Rongers said. Cancer Challenge is a nonprofit group based in Springdale promoting and encouraging cooperation in anti-cancer efforts and provides grants.
It set finding a genetic counselor as a group priority, provided a $50,000 grant toward the goal and worked out the details of Cook’s cooperation between cancer treatment centers in the area. Cook works out of an office at the Highlands Oncology Group in Rogers, but sees people referred by cooperating clinics throughout the region.
“It’s been a gap in our community service for a long time, and then, quite suddenly, the right players were in place,” Rongers said of finding Cook and the necessary support network.
Counselors such as Cook are in very limited supply, Rongers said. There are 30 schools teaching the discipline in the country, she and Cook said, and each graduates about six to eight students a year. Cook spent time in Northwest Arkansas as a student at UAMS and was familiar to the Cancer Challenge, she and Rongers said.
Bradley Schaefer, director of genetics at UAMS, described genetic counseling as “a very intense job.”
“It’s half science and half social work and psychology,” he said. “Sometimes you have powerful, potentially painful news to tell someone.”
A counselor may need to tell a patient a flaw or mutation in his genes will lead, or very likely lead, to cancer and other members of the family also need to be tested.
“That is not the type of thing you can tell someone and then tell them to go home and have a nice day,” Schaefer said.
“Genetic testing helps direct almost all cancer treatment these days,” he said.
The right tests can help identify the best medicine to use, the right doses and even predict possible side effects in cancer and other conditions, he said. The whole field is ever-changing, he said.
“Since the completion of the human genome project in 2001, genetic testing has progressed at an exponential rate.
“The sky is the limit,” Schaefer said. “For instance, there are studies now looking at the implications of doing whole genome sequencing on the newborn screening blood-spots. Think about what that means. By the second day of a person’s life you can know their whole genetic makeup and all that entails. Of course genetic counseling will be critical to interpret this complicated information to people.”
Cook noted clear, inescapable results are the exception, but the patient is better off knowing even in the worst cases, she said. Then he knows he needs to have himself screened frequently to catch any cancer as early as possible, which could vastly increase the prospects of successful treatment, she said.
“If you have a predisposition, it exists whether you test for it or not,” Cook said.
Her job doesn’t end with telling a patient what health threats he faces. Cook also works with doctors to develop a plan for regular tests and changes in the patient’s lifestyle if either of the two are needed.
“I’m proactive. I’m a very proactive person, and that is the most important thing,” Cook said.
Testing many times reveals a mutation that may or may not be harmful. That needs to be assessed in light of the patient’s history, Cook said.
She compared ambiguities in gene testing results to misspellings. The purpose of genes is to carry messages, so to speak. Genes don’t have to be perfect to do their job, Cook said. A “misspelling” may or not be important as long as the message is understood.
Someone reading the word “color,” for example, knows the word and knows when it’s spelled correctly, she said. Someone reading the word “colour” might realize that’s either an uncommon spelling or a misspelling, but he can still read the message containing the word with a high degree of confidence.
But a sentence that includes “kolor” is clearly not a word and its meaning may be misinterpreted.
“The cases were there is a clear and positive ‘misspelling’ are about 10 percent” in the world of genetic testing, Cook said. “The ones that are negative for a mutation are about 60 percent. The remaining 30 percent are ‘variants of unknown significance.’”
Narrowing down what’s unknown by looking for related symptoms, family history or any other relevant factors is part of her job, she said.
Marshall-Miller has a healthy, grown son who will now be tested to see if he carries the same condition. All her relatives who may have inherited the condition have been informed, she said. Not only do they know to be screened for certain types of cancers more often, they know what kind of cancer-screening tests are best.
“Something that wasn’t on our radar ever is suddenly all over our radar,” Marshall-Miller said. “Genetic testing is not the wave of the future, it is the necessity of right now.”
“It’s half science and half social work and psychology. Sometimes you have powerful, potentially painful news to tell someone.” — Bradley Schaefer, director of genetics at UAMS, about genetic counseling