A recent study published in JAMA Network Open highlights the importance of integrating genetic testing for cancer susceptibility into primary care practices. The research, led by Dr. Elizabeth Swisher from UW Medicine, explores two innovative methods to identify and test patients at higher risk for hereditary cancers. These cancers, which account for up to 10% of all cases, include common types such as breast, ovarian, colon, stomach, uterine, and pancreatic cancers. Despite the availability of commercial tests, routine screening in primary care remains limited due to complexity and time constraints. However, this study presents a promising opportunity to bridge this gap.
The research team evaluated two approaches to assess hereditary cancer risks in primary-care settings. One method involved engaging patients directly at the clinic or before virtual visits through questionnaires. This point-of-care approach aimed to gather information about personal and family cancer histories, as well as relevant ethnic backgrounds. The second method employed letters or emails to invite patients to complete the questionnaire online from home, referred to as the direct patient engagement approach. Both strategies focused on identifying individuals who might carry genes linked to increased cancer risk.
In the point-of-care approach, patients were asked to fill out a detailed questionnaire either during their clinic visit or prior to a virtual consultation. This questionnaire covered not only the patient's own medical history but also that of first-degree relatives (parents, siblings, children) and second-degree relatives (grandparents, aunts, uncles, nieces, nephews). Additionally, it included questions about ethnic background, particularly focusing on ancestries associated with higher genetic risks, such as Ashkenazi Jewish heritage.
For those identified as potentially carrying cancer-susceptibility genes, a saliva-sample test was offered free of charge and could be completed at home. All participants who tested positive for gene variants linked to cancer risk received genetic counseling. In contrast, the direct patient engagement approach relied on sending invitations via email or mail, encouraging patients to complete the questionnaire remotely. This method allowed for broader outreach but required more initiative from the patients themselves.
The study was conducted across 12 primary-care clinics within two healthcare systems—one in Washington state and the other spanning Montana and Wyoming. The clinics served diverse populations, ranging from urban and mixed ethnic groups to rural white communities. During the study period, nearly 96,000 patients were seen in these clinics. Of these, over 18,000 were approached in-clinic, while more than 41,000 received invitations via email or mail.
The findings revealed that the point-of-care approach led to a higher completion rate of risk assessments among patients (19.1%) compared to the direct engagement group (8.7%). However, when it came to actual testing, the direct engagement group saw a higher proportion of eligible patients undergoing genetic testing (44.7%) compared to the point-of-care group (24.7%). Interestingly, although fewer respondents from the direct engagement group participated, those who did were more likely to test positive for cancer-risk genes (6.6%) than those from the point-of-care group (3.8%).
Dr. Swisher noted that both methods demonstrated value in improving access to genetic testing for hereditary cancers. However, there is still a need to refine these strategies to enhance participation rates and reduce barriers to testing. By addressing these challenges, primary care providers can play a crucial role in early detection and prevention of hereditary cancers, ultimately saving lives and improving patient outcomes.