Innovative Approaches to Improve Cancer Gene Testing in Primary Care

Recent research from the University of Washington School of Medicine has shed light on effective strategies to enhance the detection of hereditary cancer risks in primary care settings. While approximately 10% of cancers are linked to genetic mutations that can be identified through commercially available tests, the integration of genetic screening into routine primary care remains limited.

Lead researcher Dr. Elizabeth Swisher highlights that current practices often overlook the potential for early detection of cancer susceptibility genes. This gap in screening is particularly concerning given that patients with a family history of cancer are at a higher risk of carrying these genes. By identifying these individuals early, healthcare providers can implement preventive measures before cancer develops.

The study, published in JAMA Network Open, evaluated two distinct methodologies for assessing patients' hereditary cancer risks. The first method, termed the point-of-care approach, involved having patients complete a questionnaire at the clinic or during virtual visits prior to consultations with their primary care physicians. The second method, known as direct patient engagement, entailed sending out letters or emails inviting patients to fill out the questionnaire online from home.

The questionnaires inquired about the patients' personal cancer histories as well as those of their first-degree and second-degree relatives. Additionally, they included questions regarding ethnic backgrounds, such as Ashkenazi Jewish ancestry, which is associated with increased genetic risk for various cancers, including breast, prostate, colon, and pancreatic cancers.

Patients whose assessments suggested a potential genetic predisposition to cancer were offered a saliva test that screens for 29 hereditary cancer risk genes, at no cost, which they could complete at home. Those who tested positive for cancer-risk gene variants received genetic counseling to discuss their options and next steps.

The study was conducted across 12 primary-care clinics from two different healthcare systems, with six clinics located in Washington state under MultiCare and six in Montana and Wyoming operated by the Billings Clinic. The clinics served diverse populations, with MultiCare catering primarily to a mixed ethnic and racial urban demographic and the Billings Clinic primarily serving a rural, predominantly white population.

Results indicated that the point-of-care approach yielded a higher completion rate of risk assessments, with 19.1% of patients participating, compared to 8.7% in the direct patient engagement group. Conversely, among those eligible for testing based on their assessments, a greater percentage from the direct engagement group pursued testing--44.7% compared to 24.7% from the point-of-care group.

Dr. Swisher noted that the respondents in the direct engagement category may have been more inclined to have concerns about their family histories, leading to a higher likelihood of positive test results in this group (6.6%) compared to the point-of-care group (3.8%).

Ultimately, the findings suggest that both strategies possess unique advantages, but there is a clear need to further enhance the uptake of genetic testing and reduce barriers to access. Continuous efforts are essential to make hereditary cancer screening a routine part of primary care, potentially saving lives through early intervention.