Genetic testing ‘a gift’ for families in the fight against cancer

Kathy Harvey and her older sister Karen Krajewski were enjoying a summer afternoon in the pool when they had a conversation that would change their family forever.

Krajewski, a neurogenetic counselor, had told Harvey about an affordable genetic test for cancer risk that could be taken without a doctor’s referral. Now, she wanted to know if she had Harvey’s blessing to take the test, given the results could impact their whole family.

Harvey told Krajewski to go for it.

“Never in a million years did I expect it to come back positive,” Harvey says.

She was confident their risk of having a genetic susceptibility for cancer was low, given that no one on their mom’s side of the family had any history of the disease. Nor did the relatives on their dad’s maternal side. However, the sisters weren’t in close contact with their dad’s paternal relatives and only had a foggy sense of their health history. Krajewski recalled being told a grand-aunt on that side had died at age 35 of breast cancer. The knowledge stuck in the back of her mind.

Krajewski listened to her gut and ordered an at-home genetic test. Her results revealed potentially life-saving information about her genes and spurred her sisters to seek genetic counseling at the Barbara Ann Karmanos Cancer Institute.

Their experience busts several myths about genetic testing as a screening tool for cancer risk: That it’s too expensive, that you must have a doctor’s referral or that it’s only valuable if there’s cancer among your maternal relatives and that it’s best to do after being diagnosed.


Nancie Petrucelli, director and senior genetic counselor with the Cancer Genetic Counseling Service at the Karmanos Cancer Institute says that one in three people will develop cancer in their lifetime. For most, the disease will occur sporadically, influenced by environmental factors, lifestyle choices or chance. However, 5-10 percent of cases will be hereditary, meaning they are passed down through a mutation in the family’s genes.

When working properly, all of the genes related to cancer are flipped “on” to protect against the disease. Genetic testing checks to see if any of the genes are switched “off,” making an individual prone to developing the types of cancer associated with that gene.

“It’s actually pretty rare to have one of these genetic mutations running in the family. But, because these are passed down, it has the power to impact a lot of people within that family,” Petrucelli says. “That’s why it’s really important we try to identify who these families and individuals are, to be proactive and work with their health care providers to manage them differently than we would the person who’s at average risk.”

Petrucelli says that when a patient comes to Karmanos for genetic counseling, they’ll be asked to give a detailed health history for both sides of their family. That information enables Petrucelli and her colleagues to perform a risk assessment. Several red flags indicate whether a patient is a good fit for genetic testing, she says: • A family history of rare types of cancer, such as male breast cancer • A relative diagnosed younger than age 50 • Three or more relatives diagnosed with the same cancer, regardless of age at onset • A relative with more than one type of cancer, such as breast and ovarian or colon and uterine

If a patient is deemed a good candidate for genetic testing, a Karmanos counselor will discuss the options with them during their initial visit. Testing at Karmanos involves a quick, simple blood or saliva test, with results delivered a few weeks on a phone call. At that time, a counselor will explain the patient’s genetic testing results, provide appropriate management recommendations, discuss implications for family members, answer questions and address the emotional impact of testing.

Petrucelli says many of the barriers that once prevented patients from taking advantage of genetic testing are no longer issues.

“Now you can be tested through large gene panels for $250 if you had to pay for it out of your own pocket. It’s not the thousands of dollars that it used to be but many patients are unaware of the affordability,” she says.

“The general message is that for patients with a cancer diagnosis, genetic counseling and testing can have a direct impact on treatments and future screenings, as well as impact for their family members. So, it’s an important component of that patient’s cancer journey,” Petrucelli says. “Twenty years ago, we were not seeing patients at the time of diagnosis. Patients would get referred to genetics six months to a year after diagnosis, after they’d gone through treatment and were feeling better. It was always presented as an afterthought to patients: ‘Once you’re through your cancer journey, you might want to go talk to a genetics professional about the implications of your cancer for your family members.’ That has changed completely.”

Now, genetic testing is used to identify patients at high risk even before diagnosis so they can receive tailored screenings to detect cancer in its earliest, most-treatable stages.

Petrucelli counseled Harvey and her younger sister Kristen Topper at Karmanos after they proactively scheduled genetic counseling appointments. Their older sister Krajewski already had taken a test she ordered online. The sisters’ test results encouraged them to follow up with targeted screening measures, with shocking results.


In the early summer of 2019, Krajewski, then 46, underwent a routine mammogram and received a clean bill of health. However, after genetic testing revealed she had a mutation that made her more prone to breast and ovarian cancer, she scheduled a follow-up MRI for that September. The procedure is used as a breast cancer screening tool for women deemed at higher risk.

The MRI revealed Krajewski had stage one breast cancer.

“We never expected that,” Harvey says. “That was super stressful.”

Krajewski opted to have a double mastectomy and received chemotherapy to treat the cancer. She also scheduled preventive surgery to have her ovaries removed.

Due to her experience as a genetic counselor, Krajewski had felt comfortable ordering an at-home genetic test. It required her to mail in a saliva sample. She received her results via email and had the option to schedule counseling over the phone.

Instead, she encouraged her sisters — Harvey, who was 42 in the summer of 2019, and Topper, then 41 — to seek genetic counseling through Karmanos so they could have a counselor guide them through the entire experience.

Harvey’s genetic test results through Karmanos revealed she too had the familial mutation that put her at higher risk of developing breast and ovarian cancer. After additional screening, she wasn’t diagnosed with cancer, like her older sister, but decided to have her ovaries and breasts removed as a preventive measure. Both women underwent breast reconstruction.

“It took us a year to get all of this done,” Harvey says. “There are still other screenings that we have to do, such as colonoscopies. There are still things we’re at risk for. But the major risk factors are out of our bodies. Karen’s prognosis was always really good, so that was helpful.”

Topper, their younger sister, didn’t test positive for the familial mutation related to breast and ovarian cancer -or any other serious disease - and became the family cheerleader throughout the ordeal, Harvey says.

“I was relieved that my younger sister didn’t have it. So relieved. And she was left feeling very guilty that she didn’t have it and that we did,” Harvey says. “The three of us are very close, thankfully, so it was just a weird dynamic of emotions.” A year after that conversation in the pool, would Harvey do it all again?

“It was the best thing that happened to me,” she says. “I’ve learned about myself. I’m amazed at what my body can do. It’s been such an evolution over the past 12 months. I think my sister would say the same thing, although she had the cancer aspect of it that I didn’t have.”

“Someone had asked me, ‘Are you mad at her for taking the test?’ and I’m like, ‘No! She saved her own life and she could have saved mine too. I never would have known,’ ” Harvey says. “This was really like a gift.”

Kathy Harvey and her older sister Karen Krajewski