Up and Down the Family Tree
How genetic testing helped one patient dodge cancer
Paula Wishart, 48, is many things: married to her college sweetheart, a mother of two, a professional development consultant in higher education and a person who loves to cook Italian food with her mother and daughter, both named Isa.
She's also a cancer dodger. Thanks to the University of Michigan Cancer Genetics Clinic, Wishart was diagnosed with Lynch Syndrome, a hereditary condition that greatly increases the chances of developing colon and other cancers earlier in life than what’s considered typical.
She attributes her good fortune to her mother's openness about her health and willingness to go through genetic testing.
The Cancer Genetics Clinic provides screening and counseling to educate patients and their families about their risks for cancer. Physicians and genetic counselors help patients and their families understand how their genes might contribute to cancer and what actions they can take to manage their risk.
"We take care of families as a whole," says Elena Stoffel, M.D., director of the Cancer Genetics Clinic. "To identify familial cancer syndromes you have to look beyond a single diagnosis. If there are other cancers in the family, and those diagnoses fit a particular pattern, there may be more going on."
This was the case with Wishart's mother.
"My mother had uterine cancer and colon cancer separately, so I've been vigilant about my health," Wishart says. "Looking back at my history, my grandfather died of cancer. So did my aunt and my cousin. My mom agreed to genetic testing to see whether there was a genetic mutation."
In the process, doctors identified the mutated gene responsible for the cancer diagnoses in her family and confirmed the diagnosis of Lynch Syndrome. This meant Wishart and her family members could be tested for Lynch Syndrome. She and her twin brother have the mutation. Her other three siblings do not.
The family history of cancer prompted Wishart to push her physician to schedule annual colonoscopies before the recommended age. Within a year's period, a small spot on her colon had grown into a large adenoma.
"It might take a regular person 10 years to develop this kind of pre-cancerous growth. Because I have Lynch, it happened much more quickly," Wishart says.
Preventative cancer screenings are one way patients with Lynch Syndrome can stay healthy or detect cancer early. In Wishart's case, the adenoma was too large to remove so she opted to have surgery to remove half of her colon. And, because the Lynch mutation is linked to a high risk for endometrial cancers, she followed her physician's recommendation to have a hysterectomy and oophorectomy, which includes removing all reproductive organs.
Wishart worked with U-M Certified Genetics Counselor Jessica Everett to understand her cancer risks and options for reducing them. This counseling, which included discussions of fears and future scenarios, was a large factor in her decision to have the surgery.
"It was a hard decision but, after I woke up from surgery, I was so grateful," she says. "There were a lot of people on the floor fighting cancer, like so many of my family members. I felt very aware this could have been me. I felt blessed."
Is genetic testing right for you? What doctors look for before recommending genetic testing:
- cancer at an early age
- one person with multiple primary cancers
- cancer in both paired organs or more than one tumor in an organ
- the same type of cancer in close relatives
- cancer in multiple generations of a family
- rare tumors
- unusual presentation of cancer, such as male breast cancer
Now, with routine colonoscopy screenings, Wishart's risk for developing colon cancer has been dramatically reduced. She advocates for genetic testing, speaks on panels, and educates medical students on the connection between colon cancer and Lynch Syndrome as well as the importance for doctors to push patients for family health history.
"From my perspective, your genetics are up and down your family tree," she says. "Genetic testing has enabled me to impact my family in ways that are very important to me. I am avoiding cancer, which my cousin wasn’t able to do. I value my life more than those individual organs I had removed."
Wishart's other children, ages 11 and 13, are too young to be tested for Lynch Syndrome. The family openly discusses Lynch and cancer so they will be able to make the decision whether or not to be tested for the Lynch mutation once they are young adults.
"The fear of knowing can be so strong for people," Wishart says. "I feel like knowing gives you strength."
Additional Resources and Information
U-M Comprehensive Cancer Center Resources
- Cancer Genetics web pages
- Cancer Genetics Clinic
- Preparing for your appointment in the Cancer Genetics Clinic
- Breast & Ovarian Risk Evaluation Program
Continue reading the Fall, 2012 issue of Thrive.