0
0
A recent study published in JAMA Network Open highlights new approaches to improve genetic testing for cancer susceptibility in primary-care settings. Up to 10% of cancers are linked to hereditary genes that can be identified through commercially available tests, yet routine screening remains uncommon in primary care.
Dr. Elizabeth Swisher, a UW Medicine gynecological oncologist and the study’s lead author, emphasized the need for better screening. “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,” she said. “But it is an opportunity lost.”
The study assessed two strategies to identify patients at risk for hereditary cancer and facilitate genetic testing. The first approach, called the point-of-care method, involved asking patients to complete a questionnaire before seeing their doctor during a clinic visit. The second approach, termed direct patient engagement, sent emails or letters prompting patients to fill out the questionnaire online from home.
The questionnaire gathered information about personal and family cancer history, focusing on first-degree relatives (parents, siblings, and offspring) and second-degree relatives (grandparents, aunts, uncles, nieces, and nephews). It also considered ethnic background, particularly Ashkenazi Jewish ancestry, which is linked to an increased risk of several cancers, including breast, prostate, colon, and pancreatic cancer.
Patients identified as high-risk were offered a free at-home saliva-based genetic test screening for 29 cancer-related genes. Those who tested positive received genetic counseling, and their primary-care physicians were provided with a care plan.
The study took place across 12 primary-care clinics in Washington, Montana, and Wyoming, serving diverse urban and rural populations. Over the course of the study, 95,623 patients visited these clinics, with 18,030 approached in-person and 41,558 contacted via email or mail.
Results showed that the point-of-care approach had a higher response rate, with 19.1% of patients completing the risk assessment compared to 8.7% in the direct patient engagement group. However, among those eligible for genetic testing, a higher percentage of the direct engagement group proceeded with testing (44.7% vs. 24.7%). Additionally, those in the direct engagement group were more likely to test positive (6.6%) than those in the point-of-care group (3.8%).
“Both strategies had some utility,” Swisher noted. “But we need to develop ways to improve uptake of testing and further reduce barriers to the testing process.”
Disclaimer
This article is for informational purposes only and should not be considered medical advice. Patients should consult with their healthcare provider for personalized recommendations regarding genetic testing and cancer screening.
