For more than a year, Nebraska Medicine has offered the Genetic Insights Project (GIP), a research study that screens eligible participants for three CDC Tier 1 genomic conditions. Now, new data shows that GIP participants demonstrate improved cancer screening adherence after enrollment.
Observations on screening adherence
The GIP is a research study partnership between Nebraska Medicine and Helix, a leader in population genomics. Recent findings presented by the Helix Research Network include an observed pattern in breast cancer screening adherence among participants. These findings were based on data from a consortium of health systems across North America, of which GIP data contributes to.
“What was observed is a significant improvement in frequency of mammograms pre versus post study enrollment,” says Douglas Stoller, MD, PhD, advanced heart failure and transplant cardiologist and the principal investigator for the Nebraska Medicine arm of the study. “This was a really interesting and reassuring finding, because early on, there was concern that participants who tested negative, which is the vast majority – 98% of people that get this screen test negative – would then choose not to get further mammograms.”
According to the data, before enrolling in the study, female participants received mammograms approximately every 2.8 years, on average. After participation, that interval decreased to about 1.8 years, bringing them within guideline recommendations. The data presented suggests this observed screening pattern was sustained for multiple years following study enrollment.
“Even up to two to three years after the fact, whether they tested negative or positive, participants demonstrated improvement in screening mammograms,” Dr. Stoller says.
This pattern may have implications for breast cancer detection beyond identifying those with genetic predispositions.
“Even for those without BRCA1 and 2, because participants seem to be getting screened more frequently, we’re likely picking up other breast cancers independent of those that have genetic risk,” Dr. Stoller says.
Benefits for BRCA-positive patients
The study also showed increased screening adherence among women who tested positive for BRCA1 or BRCA2 mutations. According to the research data, there was a significant increase in guideline adherence from 37.3% pre-result to 52.6% post-result among these high-risk patients.
This finding reinforces the value of genetic testing in motivating appropriate screening behaviors among high-risk individuals. It represents an important opportunity to identify patients who could benefit from enhanced surveillance and risk management.
Implications for primary care
These findings have direct relevance to practice management and patient care.
“For a PCP, it’s new information that I think has direct relevance to practice management,” Dr. Stoller says. “What’s observed is that patients that have participated in the study as a group at least show better adherence, which can only improve health outcomes.”
The study demonstrates that participation in programs like the GIP may provide value beyond just identifying patients with pathogenic variants. The process of engagement with genetic screening appears to increase guideline adherence across the board.
New saliva testing kit option
To make participation more convenient, the GIP now offers a saliva testing kit option. This allows participants to collect a sample at home, eliminating the need for a lab visit and blood draw.
“My sense is that there’s been a shift where more and more people are choosing the saliva kit,” Dr. Stoller says. “There’s definitely been a lot of uptake and people seem pretty engaged.”
This option may be especially appealing to patients who are hesitant about blood draws or have difficulty scheduling lab visits.
Want more information?
The principal investigator on this study is Douglas Stoller, MD, PhD.
Genetic Insights Project, IRB #0645-23-CB.
University of Nebraska Medical Center, 982265 Nebraska Medical Center, Omaha, NE 68198.
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