Increasing Cancer-Gene Testing in Primary Care.
Increasing Cancer-Gene Testing in Primary Care
A new study found that the point-of-care approach screened more patients than engagement through email and mail—but genetic testing rates were similar in both approaches, suggesting the need for a combination of engagement strategies.
Up to 10 percent of cancers are caused by genes that can be easily detected by commercially available tests. This includes common cancers, such as cancer of the breast, ovary, colon, stomach, uterus and pancreas.
But most genetic testing for cancer risk doesn’t occur until after a cancer diagnosis.
A new study led by the School of Public Health and the University of Washington School of Medicine (UW Medicine) sought to determine the most effective ways primary care clinics can screen patients for hereditary cancer risks and deliver testing to those who are identified as higher risk.
Published in JAMA Network Open, the study evaluated two screening approaches: point of care (POC), in which primary care staff conduct the screening before clinical appointments; and direct patient engagement (DPE), in which staff conduct letter and email outreach to patients that guide them to complete the screening at home.
The study found that POC engagement resulted in a higher rate of assessment of hereditary cancer risk than the DPE approach, but both approaches yielded a similar rate of genetic testing, suggesting that a combination of engagement strategies may be optimal for greater reach and impact.
“The study findings highlight the need to consider multiple options for engaging with patients, who may not be reached if only one approach is undertaken,” says study senior author Catharine Wang, professor of community health sciences.
Patients with a family history of cancer are at the highest risk of carrying these genes. Even though they are an ideal group for testing, screening of these patients is rarely done as part of routine primary care, when it’s most likely to detect the risk before a cancer has developed, says study lead author Elizabeth Swisher, a gynecological oncologist at UW Medicine.
“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,” Swisher says. “But it is an opportunity lost.”
The study was conducted in 12 primary care clinics run by two different health care systems. Six were in Washington state, run by MultiCare, and six were in Montana and Wyoming, run by the Billings Clinic. The MultiCare clinics primarily serve a mixed ethnic and racial urban population. The Billings Clinic primarily serves a rural white population.
The clinics were randomly assigned to use one or the other approach. During the study period, 95,623 patients were seen in the 12 clinics. Of these, 18,030 were approached during their visit in-clinic and 41,558 were sent email or letters.
For the POC approach, staff asked patients when they came to the clinic, or before a virtual visit, to fill out a questionnaire before they saw their primary-care provider. For the DPE approach, staff sent a series of letters or emails to patients inviting them to fill out the questionnaire online from home.
The questionnaires asked about the patients’ cancer history and that of their first-degree relatives—parents, siblings, and offspring—and second-degree relatives such as grandparents, aunt and uncles, and nieces and nephews. The questionnaires also asked about relevant ethnic information, such as Ashkenazi Jewish ancestry, which is associated with a genetic risk of several cancers, including cancers of the breast, prostate, colon and pancreas.
Patients whose completed assessment suggested they might carry a cancer-susceptibility gene were offered a test that screened for 29 such genes.
The saliva-sample test was offered for free and could be administered at home. 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.
The researchers found that the point-of-care approach resulted in a higher proportion of patients (19.1 percent) completing the risk assessment than was the case in the direct patient engagement group (8.7 percent), 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 percent compared with 24.7 percent of the point-of-care group.
The researchers speculate that the respondents in the direct engagement group may have already had concerns about their family genetic history. Although fewer from this group responded, those who did were more likely to test positive (6.6 percent) than were people in the point-of-care group (3.8 percent).
“Efforts to directly engage with patients outside of the clinical setting using digital approaches may reduce clinic burden, but only reach a subset of the population, who are more comfortable with technology,” Wang says. “Combining direct patient engagement efforts with selected point-of-care approaches may facilitate greater efficiency and reach, and reduce concerns for magnifying disparities among those who are systematically not reached otherwise.”
Deborah Bowen, professor of bioethics and humanities at the UW School of Medicine and former chair and professor of community health sciences at SPH, was a co-lead author of the study until her death in 2022. At SPH, additional coauthors include Howard Cabral, professor of biostatistics, and Rabindra Kadel, statistical programmer II for the Biostatistics and Epidemiology Data Analytic Center (BEDAC).