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.
Paula Wishart (center) with her daughter, Isa Wishart (right) and her mother, Isa Di Rita (left)
Photo by Edda Pacifico
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."
Wishart stresses the importance of communicating
with your physician about your family history of cancers and other health issues. Be your own patient advocate.
Photo by Edda Pacifico
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."
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.