By Christine Hensel Triantos
On a cold winter day in 2002, Sharon Goyette stepped into Dana-Farber’s Center for Cancer Genetics and Prevention. She was a 21-year-old college student, and this was the last place she wanted to be. But her mother had insisted.
After developing colon cancer, Goyette’s mother had been diagnosed with Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer), an inherited condition that increases the risk of many types of cancer, including colorectal, uterine, stomach, brain, and skin.
Her colon cancer was now advanced, and she had pleaded with Goyette to undergo genetic testing to find out if she, too, carried the genetic mutation that would increase her own cancer risk — and, more importantly, take the necessary steps to avoid the same path.
So Goyette met with a genetic counselor and Sapna Syngal, MD, MPH, a gastroenterologist at Dana-Farber/Brigham and Women’s Cancer Center who leads the Gastrointestinal Cancer Genetics and Prevention program. They explained the goal of the test was to keep Goyette healthy. If she didn’t have the mutation, her risk was not elevated. If she did have the mutation, Syngal and her team would create a screening and prevention plan to reduce her risk of disease.
The results came back positive: Goyette had Lynch syndrome. “I was finishing school, trying to figure out what to do with my life, and on top of that I was losing my mom,” she said. It was emotionally overwhelming, but she was reassured by the promise of continuing care provided by Syngal and her team.
Goyette is now 35, and has not been diagnosed with any cancer. Syngal continues to take an active role in Goyette’s overall medical management, which includes a specially designed regimen of screenings and exams. Her plan includes annual colonoscopies and dermatological exams as well as biennial upper endoscopies and uterine ultrasounds. At age 40, she will consider a prophylactic hysterectomy.
Who Should Consider Genetic Testing?
Genetic testing isn’t for everyone — at least not yet. It is recommended for people with personal or family histories that suggest an inherited genetic component. That could be a family pattern of cancer, or a close relative with a known gene mutation. It could also be someone diagnosed with cancer at an early age or with multiple cancer types.
Experts also recommend genetic testing for all women diagnosed with ovarian cancer, primary peritoneal cancer, or fallopian tube cancer, and for people who are diagnosed with rare tumors.
“There’s much more awareness now, but probably less than half of the people who should undergo testing are getting referred by their physicians,” said Syngal.
“People should not be afraid to discuss genetic testing with their doctors,” said Judy Garber, MD, MPH, a medical oncologist and the longtime director of the Center for Genetics and Prevention. “If their doctors have questions, we are here to help patients and their doctors figure it out.”
Five to 10 percent of all cancers are now attributed to inherited gene mutations. When these are identified, patients can use the information to guide screening and preventive behaviors that can help them to avoid the cancers that have occurred in their family members.
Researchers fully expect to discover more gene mutations that increase the risk of various cancers. Currently, about 200 of those are recognized — including the two most commonly known, BRCA1 and BRCA2.
To assess genetic risk, it’s important for people to understand and document their family health histories. “Patients really need to be proactive,” said Syngal, who recommends appointing a family record keeper. “Families need to talk about their cancers and the particulars of their cancers as well as premalignant conditions.” There are many types of premalignant conditions; examples include adenomatous polyps (colon), thyroid nodules, and sebaceous adenomas (skin).
The age at which people should be tested varies, says Huma Q. Rana, MD, a geneticist and clinical director for the Center of Genetics and Prevention. “In the case of a hereditary cancer syndrome that carries pediatric risk, we would recommend testing children.” For breast syndromes and other syndromes that don’t carry pediatric risk, testing typically starts at age 25, although testing for certain colon syndromes could start at 18.
Discovering you harbor an inherited mutation can carry an emotional burden, along with additional medical appointments and oversight, more frequent screenings, possible medications and prophylactic surgery, uncomfortable family discussions, and even potential challenges with life and disability insurance.
It’s important, said Syngal, for patients to have guidance through this process. Before testing is done, genetic counselors meet with patients to discuss family histories as well as the risks and benefits of testing. They point out, for example, that patients might want to secure life and/or disability insurance before testing, since – unlike health insurance – there is no protection for people with pre-existing conditions or genetic risk. They discuss whether genetic testing makes sense, and outline the medical implications of a positive result.
Costs for genetic testing range considerably. For patients who are the first in their families to be tested, the average cost ranges from $1,500 to $3,500. If the testing is narrowed because a family genetic mutation has already been identified, the cost averages $300 to $400. Many private insurance plans will cover the cost, but Medicare will cover costs for genetic testing only if the patient has already been diagnosed with cancer.
The test itself is swift and easy: a quick blood draw. (For people averse to needles, there’s also a saliva-swab option.) Results are delivered in about a month.