Universal genetic testing for breast cancer increases early detection in larger populations

Although national guidelines support the use of genetic testing in select populations, a study published in 2019 laid the foundation for the implementation of universal genetic testing, allowing physicians to offer testing for patients who would be otherwise missed.

Of the thousand who enrolled in the study and did not meet traditional testing criteria, 7.9% carried a pathogenic mutation indicating a genetic likelihood of developing cancer. In the group that met national criteria, 9.39% had a mutation, indicating that almost 50% of patients with pathogenic mutations would be missed with following national guidelines alone.

Now, Lisa Spiguel, M.D., a surgical oncologist, is spearheading increased testing to equip her patients with more information about their risk of contracting breast cancer.

“By implementing universal testing based off of this initial study, we’re demonstrating our belief in its results — that getting more testing out to patients will help inform our patients and their families of potential risk – giving us the opportunity to reduce future risk of breast cancer,” Spiguel said.

By offering more testing, she explained, her clinic will be able to miss less women at risk. In turn, information like this could change future surgical plans for such patients to include a risk reduction strategy for future breast cancer.

Just as importantly, this effect can go beyond one, singular patient — As Spiguel and her team have the ability to identify additional family members at risk, otherwise known as cascade testing. Affected family members can then be counseled on the prevention of breast cancer, potentially applying the life-saving benefits of early detection across entire family trees.

Like many system-wide improvements, offering increased genetic testing is a collaborative endeavor. In order to contend with an increase in demand for testing, Spiguel worked closely with UF Health’s medical oncologists and genetic counselors to develop an organizational structure that could not only withstand the amount of testing being completed, but also facilitate it as interest continued to grow.

Part of this involved changing workflow to initiate testing in the clinic, providing those interested with a testing kit, getting their blood drawn following a clinic visit, and placing an order in Epic for a geneticist, who then reaches out to the patient to confirm patient interest and review results. Typically, when results are negative, or without a pathogenic mutation that causes cancer, patients receive a phone call from a genetics assistant. If the results demonstrate a pathogenic alteration, a geneticist will schedule an appointment to meet with the patient and talk through their results.

“In terms of what we’ve seen, most patients want to know more about their genetic risk of developing breast cancer,” Spiguel said. “Interestingly, it was younger patients who were much more interested in testing than our older patients—and it wasn’t associated with any relation to race or ethnicity.”

Regardless of whether or not patients choose to get tested, families receive an opportunity to learn more about future risk, avenues for risk reduction and role for increased disease surveillance.

For the women who elected to undergo testing, the presence of pathogenic test results were the ones most likely to affect future surgical decision-making. In fact, 63% of those who received confirmation of pathogenic test results elected for risk-reducing surgery.

In reality, only around 10 to 15% of all diagnosed breast cancers have a known genetic mutation, Spiguel pointed out.

“But for that cohort of patients, the opportunity for risk reduction or high-risk surveillance can mean the difference of a lifetime,” she said.