In January 2023, 61-year-old Donald McGuthry went to the emergency room. He thought he’d pulled a muscle while helping his wife’s grandmother off the ground after a fall, but the pain wouldn’t go away after two weeks.
Doctors diagnosed him with Stage 4 kidney cancer. By then, the cancer had spread to his brain, lungs and pelvis.
Doctors also tested Donald’s blood and discovered he had a genetic variant that put his children and relatives at risk for cancer.
“There's been a history of cancer in his family, but no one had the genetic testing completed," said Donald's wife, Lisa McGuthry. "So with us having three daughters, naturally, we wanted to know, where was this coming from?”
Cancer genes
Donald’s mother died of breast cancer when he was 11. He went into foster care shortly after, not knowing much about his family’s medical history.
After reaching out to family following the testing, the McGuthry family realized Donald’s aunts and cousins who died of cancer likely had the same gene.
Up to 10% of cancers are passed down with DNA, according to the National Cancer Institute. A blood test can screen DNA for dozens of genes linked to certain types of cancer.
Doctors say people with a history of cancer in their immediate family are good candidates for genetic testing. Within that group, doctors find a familial inheritance pattern of cancer in 30-40% of cases, said Dr. Jordan Winter, chief of surgical oncology at University Hospitals.
He said people of Ashkenazi Jewish descent are often recommended for genetic testing, because the group has a higher prevalence of breast cancer genes, or BRCA, and are at higher risk of hereditary breast and ovarian cancers.
Missed opportunities
The knowledge of a genetic link can save lives, because doctors can add screenings to monitor for specific cancers, Winter said.
But most people who could be helped by the test don't get it, said Dr. Holly Pederson, director of Medical Breast Services at the Cleveland Clinic's Breast Center.
She added that the testing is often only suggested for people once they already have a cancer diagnosis, like Donald. She urged people to push for an earlier test if they feel they’re at risk.
“Not all medical providers can keep up with all of the genetics in all of the different disease states," Pederson said. "It's just an exploding field, so if you feel that you might be at risk, persist in getting the testing.”
Without insurance coverage, testing can run around $250. Pederson said the cost has decreased dramatically in recent years, and insurers have expanded who is covered, but there hasn’t been an increase in people getting tested.
Beyond knowledge gaps, access to testing remains a barrier as well. Pederson suggests people reach out to a genetic counsellor, but said there is currently a national shortage of genetic counsellors that is causing a six month to a year delay in appointments in some communities. She said people can also order direct to consumer genetic testing that do next-generation sequencing (NGS).
Detection leads to prevention
The results from Donald's genetic testing came too late. Doctors were able to rid most of the cancer from his body, but the medications took a toll. He died from cardiac arrest in February.
“He did everything he could," Lisa McGuthry said. "The sad part is that he paid with his life, but in the long run ... that genetic testing is going to help our daughters.”
The gene her husband tested positive for means her daughters are susceptible to all cancers, so they need to screen for the most common ones sooner in life.
"My mother died from metastatic breast cancer, so I knew that early on that I would have to have mammograms earlier," she said. "They do mine twice a year, but [their importance] really didn't hit home until [cancer] hit my husband."
"The sad part is that he paid with his life, but in the long run ... that genetic testing is going to help our daughters.”Lisa McGuthry
Dr. Holly Pederson said many families don't know by pursuing genetic testing they may be able to save their family members from suffering a late cancer diagnosis.
"You can change the legacy in a family by identification of these individuals early on," she said. "[Breast or ovarian cancer] genes can be hiding on the father's side... but with [genetic testing and cancer screenings] cancers can be picked up early."
"Knowledge is power"
McGuthry often talks to customers at her Larchmere boutique, Our Favorite Things, about how she’s changed her eating habits following her husband’s cancer battle — something she and her daughters believe will help mitigate their cancer risk.
She also tells people about genetic testing. Her customers come largely from Cleveland’s East Side, which is predominately Black. Studies show that Black people are less likely to receive an early cancer diagnosis, and are more likely to die from cancer.
“If there is a family history, talk about it. You have to ask those questions," McGuthry said. "Don't be afraid to ask those hard questions. Write them down, this is what I need to ask my doctor.”
It’s always worth knowing your risk of inherited cancers, even if it’s just something for your doctor to keep track of, she said.
