Lack of cancer-gene screening in primary care is ‘an opportunity lost’

As many as 10% of cancers are caused by genes that are easily detectable through widely available genetic tests. Despite their availability, primary care physicians rarely use them — often citing complexity and time constraints.

Last week, researchers from the University of Washington School of Medicine published a study in JAMA Network Open thathighlights key barriers and solutions to integrating genetic cancer screening into primary care.

“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 Elizabeth Swisher, MD, lead author of the study and University of Washington Medicine gynecological oncologist. “But it is an opportunity lost.”

Researchers examined 95,623 patients across 12 primary care practices in Washington, Montana and Wyoming to determine which approach — screening at the point of care or direct patient engagement — was more effective in identifying at-risk individuals and facilitating genetic testing.

Two approaches, different results

The study tested two methods. In the point-of-care (POC) model, patients completed a cancer risk questionnaire when arriving for an in-person appointment or prior to a telehealth visit. In the direct patient engagement (DPE) model, patients received letters or emails inviting them to fill out the questionnaire online.

The questionnaires asked about the patients’ cancer histories, and that of their first- and second-generation relatives. The patients were also asked to provide relevant ethnic information.

Of the total practice population, 19.1% of patients in the POC group completed the risk assessment compared to 8.7% in the DPE group. However, among patients who were eligible for genetic testing based on their responses, 44.7% of the DPE group proceeded with testing compared to 24.7% in the POC group.

Patients flagged as at-risk were offered free, saliva-sample, at-home test kits, which screened for 29 cancer-susceptible genes. “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 explained.

The researchers speculated that patients who took the initiative to respond to outreach at home may have already had concerns about the genetic risk, making them more likely to follow through with testing. The results suggest that, while in-person screening reaches a broader population, direct outreach appears to engage those most likely to follow through with testing.

The study underscores the need for improved strategies to identify patients at risk for hereditary cancer. Cancers including breast, ovarian, colon and pancreatic cancer are linked to inherited genes that can be detected through commercially available tests. Yet, most testing occurs after a cancer diagnosis rather than as a preventive measure.

Swisher emphasized that a more integrated approach could yield better results. “Both strategies had some utility, but we need to develop ways to improve uptake of testing and further reduce barriers to the testing process.”

Ultimately, researchers conclude that a hybrid model — one that combines POC screening with proactive patient outreach — may be the best way forward for primary care practices to implement hereditary cancer risk assessments more effectively, helping more patients access preventive care before cancer develops.