HQ Team
March 10, 2025: Patient screening in primary care settings can detect up to 10% of cancers caused by genes. Easily available tests can screen for common cancers such as breast, ovary, colon, stomach, uterus and pancreas.
In a study published in the JAMA, scientists put forth two ways that primary-care practices could assess patients’ hereditary cancer risks and do the necessary testing for those with higher risk.
Patients with a family history of cancer are at the highest risk of carrying these genes. But such patents are routinely overlooked in primary care clinics, and it is an opportunity missed to detect the risk of cancer or even diagnose it at an earlier stage.
“We don’t routinely screen for cancer susceptibility genes in primary-care settings because genetic testing is often considered too complicated and primary care doctors already have so many things they need to address,” said lead author Dr. Elizabeth Swisher, a UW Medicine gynecological oncologist. “But it is an opportunity lost.”
Cancer care and detection methods
The study authors came up with two solutions for this lacuna. One was called the point-of-care approach, where patients were asked to fill out a questionnaire before they saw their primary-care provider. The second approach involved sending a series of letters or emails to patients inviting them to fill out the questionnaire online from home. This was called the direct patient engagement approach.
The questionnaires were about the patients’ cancer history and that of their first and second-degree relatives, which include parents, siblings, grandparents, aunts, uncles, and nephews and nieces. The questionnaire also asked about relevant ethnic information, as some ethnicities are associated with higher cancer risks.
Patients whose completed assessment suggested they might carry a cancer-susceptibility gene were offered a test that screened for 29 such genes.
All patients who were found to have cancer-risk gene variants were provided genetic counseling.
“The goal was to bypass the primary-care physician up until there was a positive test and then provide the physician with a care plan for each patient,” Swisher said.
Study approach
The study was conducted in 12 primary-care clinics, covering 95,623 patients. The clinics were randomly assigned to use one or the other approach.
The researchers found that the point-of-care approach resulted in a higher proportion of patients (19.1%) completing the risk assessment than was the case in the direct patient engagement group (8.7%), relative to the total clinic population.
But among those whose assessment indicated they were eligible for testing, a larger proportion of the direct engagement group got tested: 44.7% compared with 24.7% of the point-of-care group.
The study authors believe that the direct engagement group went for testing more as they might already be concerned and aware of their family genetic history of cancer. Although fewer from this group responded, those who did were more likely to test positive (6.6%) than were people in the point-of-care group (3.8%).
The study clearly indicates that primary care centers can act as points of early detection and prevention of common cancers. More needs to be done to communicate the necessity and urgency of getting testing done in this susceptible group. And also extend the accessibility of testing.
