"If we identify someone with an inherited risk for breast cancer, we can begin mammograms earlier," Judge said. "If someone has Lynch syndrome, we can start colonoscopy screenings earlier or more frequently to identify and remove polyps before they become cancerous. And if someone is at risk for high cholesterol, starting medication early can prevent heart disease."
About one in every 65 participants screened has been identified with a variant associated with one of the three conditions. Those participants are offered no-cost genetic counseling appointments to understand what these variants might mean for themselves and their families and to get recommendations about appropriate follow-up care. At the same time, their deidentified information contributes to a secure database that helps researchers to develop more personalized approaches to disease prevention and treatment.
Connecting South Carolinians to screening
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The program offers multiple ways for people to participate. They can provide a genetic sample through MUSC clinics, attend community collection events or receive an at-home collection kit. The program also partners with community organizations throughout the state to build awareness and trust.
The process is simple; after consent, participants need only provide either a blood sample or a cheek swab. Because the test includes a noninvasive option and can be completed from home, it removes another barrier that often limits participation.
"The approach wasn't just to offer screening in clinics," Sonawane said. "Because South Carolina has so many rural areas, we knew we needed to go into communities. That population-centered approach was really central to the program's success."
That approach has paid off.
In addition to participants having completed screenings in every South Carolina county, researchers found that after adjusting for population size, participation remained strong across both urban and rural communities.
Judge said that reaching every county was important not only to expand access to genetic screening but also to ensure that South Carolinians are represented in genomic research. The accomplishment is particularly notable because populationwide genomic screening remains relatively uncommon in the U.S.
"For many years, DNA databases used to understand what's considered 'normal' were built largely from populations in places like Iceland, the United Kingdom and parts of the northeastern and western U.S.," he said. "We want to make sure people from every part of South Carolina are represented so future discoveries reflect the diversity of our state."
The research team also looked beyond county populations alone. They compared participation using measures of rurality and the Centers for Disease Control and Prevention’s Social Vulnerability Index, which incorporates factors such as income, housing, transportation and access to health care.
"The big message is that we've done a great job reaching every county regardless of rurality or vulnerability," Sonawane added. "But there's still room for us to improve our reach in some of the most rural counties."
Building trust through community partnerships
Sonawane said the study also underscores the importance of trusted community relationships when introducing new health technologies. Many people have never heard of genomic screening while others might feel anxious learning about potential inherited risk. Community partnerships help to overcome those concerns.
"You can't just introduce a genetic screening program and expect people to participate," she said. "Building trust through community partnerships and ongoing education is key to making this program successful."
While this study focused on whether the program reached diverse populations in South Carolina, the next phase will examine whether that reach translates into better health.
"The next step is understanding the long-term effectiveness," Sonawane said. "Are we helping people get the preventive care they need? That's what we'll be studying over the next several years."
Judge said the program's ultimate goal is to prevent disease before it starts.
"We hope and expect this program will lower the incidence of South Carolina's two leading causes of death: cancer and heart disease," he said. "When people learn about their inherited risks early, they have the opportunity to take steps that can prevent disease or catch it at a much earlier, more treatable stage."
