Tricia James was 27 when she first underwent genetic testing. Not only did she have a family history that put her at high risk for breast and ovarian cancer, but she had developed ovarian cysts. She was relieved to find out that she was negative for the gene mutation targeted by the test.
Yet in fall 2025, nearly three decades later, doctors discovered Stage 3 ovarian cancer while James was in surgery for a hysterectomy. She got tested again, and this time, the same gene variation considered in 1996 came back positive. She was shocked. Retesting had never been suggested in the intervening years.
“The thing that came to my mind was I wanted my children tested,” she recounted recently through tears. “And I prayed that they would be negative, and they were.”
As genetic testing has become ever more sophisticated, capable today of detecting several dozen genes, James is among the women first tested when the field was in its infancy who are now being urged to do so again. But oncologists and gynecologists are concerned that the word is not out. They’re worried about the consequences if a generation of women doesn’t know how much they could benefit from the advances that have been made.
“There are probably thousands of individuals out there who need to be retested,” said Sofia Merajver, medical director of the Breast and Ovarian Cancer Risk Evaluation Program at the University of Michigan’s Rogel Cancer Center.
The process uses a small sample of blood or saliva to analyze DNA for variations in genes that can put someone at higher risk for a plethora of diseases or conditions. This screening is recommended when factors indicate a higher risk, such as a family history of cancer.
About 5 percent to 10 percent of women with breast cancer carry a variant that prevents an underlying gene from working properly, explained Megan Frone, a genetic counselor at the National Cancer Institute. Early technology fell short in detecting certain variants, but “we’ve made rapid, profound advances in our genetic testing since the early 2000s,” she said.
Screening for breast cancer mutations began in 1996 with the development of tests focused on the BRCA1 and BRCA2 genes.
Identifying such variations, which significantly increase the odds of both breast and ovarian cancers, provides a woman with a more complete understanding of her risk. It also allows for interventions that could mitigate it, including drugs or hormonal therapies, as well as surgical measures such as a preventive mastectomy, said Versha Pleasant, director of the Cancer Genetics and Breast Health Program at Von Voigtlander Women’s Hospital in Ann Arbor, Michigan.
“It’s very worthwhile for someone to get retested because if you’ve only been tested for BRCA1 and 2, you only have part of the story,” Pleasant stressed. “You don’t have the full picture and you don’t have a comprehensive understanding of what this person’s risk may be.”
Myriad Genetics, a Salt Lake City-based company, pioneered the initial tests for mutations of BRCA1 — for which James ultimately was positive — and BRCA2.
But after the Supreme Court overturned Myriad’s patent in 2013, ruling that genomic DNA could not be patented, “the revolution of panel testing began,” Merajver said. Other companies began offering testing for additional genes linked to a higher-than-average risk of breast and gynecologic cancers.
A 2023 study of those who initially tested negative reported that 17.3 percent — more than 1 in 6 — were found to have a gene variant when they were retested. The results added to “the growing body of evidence” that supports retesting, especially given the extensive panels now available, said Siddhartha Yadav, an associate professor of oncology at the Mayo Clinic.
He is concerned too few doctors are explaining this to their patients. But once informed, he added, those patients should raise the issue with their providers every few years given how much the field is evolving.
“By the time [patients] come to me, it’s too late to talk about prevention,” Yadav said.
That same study identified barriers to retesting. One is cost, because health insurance may not always cover it. Logistics also play a role: Women who think they are in the clear don’t regularly see an oncologist.
Slavka Clark, who lives in Ontario, Canada, tested negative in 2014 for BRCA1 and BRCA2 pocket mutations after she was diagnosed with breast cancer at the age of 40. She was retested for 37 mutations in 2025 after getting cancer in her other breast. The result was positive for BRCA1.
“I was shocked,” she said. “I didn’t even think that they were testing me for BRCA.”
An issue with retesting for so many variants is the limited information on whether some put a person at greater risk — meaning individuals have to be comfortable with that uncertainty, noted Frone of the National Cancer Institute.
But Merajver said there’s still value in having such data, since over time scientists will know more about which genetic mutations are benign and which are associated with disease.
At her home in Lake Forest, California, James is glad she was tested again, even if the results were not what she wanted. Her cancer is now in remission.
These days she’s a big advocate for retesting. “Don’t be afraid of it,” she said. “Get ahead of it because knowledge is going to make the difference.”
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