Connecting people with population genomic screening

Megan Roberts and her colleagues used a TraCS 2K grant to kick off a longer study on how to help patients take advantage of genomic screening.

Over the past few decades, genetics and healthcare have become increasingly intertwined.

"Since the Human Genome Project, we increasingly understand the relationship between health and genetics," says Megan Roberts, an implementation scientist at the UNC Eshelman School of Pharmacy and member of the Implementation Science team at the North Carolina Translational and Clinical Sciences (NC TraCS) Institute.

This relationship is wide-ranging and complex. Some diseases, like Huntington's, only develop in people with a specific genetic variation that causes the condition. Other genetic variations may increase or lower a person's risk of developing diseases that can affect anyone, such as cancer.

From a practical standpoint, genetics can be applied to healthcare through genomic medicine, the practice of using a patient's genetic information to guide prevention, diagnosis, and treatment. In cancer care, for instance, researchers are working to understand how various medications affect tumors with different genetic variations. By sequencing DNA from a patient's unique tumor, clinicians could plot out which course of treatment may work best for that patient. People with significant personal or family histories of cancer can also use genetic testing to determine if they have an inherited risk of developing certain cancers.

Population genomic screening, a growing sub-field of genetic medicine, takes this idea one step further. Rather than testing only people with symptoms or strong family histories, population screening offers genetic testing to otherwise healthy people to identify variants associated with increased disease risk, giving them a leg up on addressing potential future illnesses.

UNC's Precision Health Genetic Screen (PHGS) looks for genetic variants related to three conditions: hereditary breast and ovarian cancer syndrome, Lynch syndrome (which increases the risk of certain cancers), and familial hypercholesterolemia (which can cause dangerously high cholesterol levels). These conditions are relatively common and actionable hereditary conditions, meaning patients can take preventive steps– such as undergoing more frequent cancer screenings—to reduce their risk of serious illness.

The program is led by UNC researchers, including Jonathan Berg, a geneticist, and Kimberly Foss, a genetic counselor. Roberts started working with PHGS to help the team evaluate its implementation. Now, she and some of her colleagues at UNC and other institutions are building a toolkit to help health systems launch and sustain population genomic screening programs—expanding access to personalized healthcare.

"We're trying to help teams adopt, implement, and sustain population genetic screening programs by learning from one another," Roberts says.

With support from an NC TraCS 2K grant, Roberts and her colleagues examined how genomic screening programs at other health systems and universities were engaging patients. Simply offering a genomic screening program doesn't guarantee that it will reach everyone who could benefit. For example, people who live in urban areas or regularly visit their doctor may be more likely to hear about genomic screening than people who live in rural areas or see the doctor less.

"The focus of the TraCS 2K grant was this idea that these programs were growing throughout the country, and we could be learning from each other," Roberts says. "We're having this experience at UNC; we're facing certain barriers and challenges. How can we be learning from other people's experiences?"

The team uncovered an important finding: successful programs use multiple outreach strategies, and no single approach reaches everyone. For example, while reaching out to patients using an electronic health portal can be a great way of getting some people to sign up for genetic screening, other people may not engage with their electronic health portal. So, many genomic screening programs hosted community events or worked with community health leaders to create locally specific engagement and outreach plans.

Insights from the 2K grant, along with the network of genomic screening programs formed during that research, helped lay the groundwork for an R01 grant-funded project led by Roberts and Caitlin Allen, an implementation scientist at Wake Forest University. The team is now studying genomic screening programs at various stages of development—from institutions considering starting a program to those with established, ongoing initiatives.

"...we wanted to go beyond 'How do we get people to participate in population genetic screenings?' and understand more generally how our programs are getting implemented into practice, how are they sustaining themselves?"

"For the R01, we wanted to go beyond 'How do we get people to participate in population genetic screenings?' and understand more generally how our programs are getting implemented into practice, how are they sustaining themselves?" Roberts says.

The ultimate goal is to build a practical implementation toolkit—a sort of manual and troubleshooting guide—to help healthcare providers start up population genomic testing and navigate the challenges they may encounter along the way. This resource will contain general information about genomic screening, such as a list of different types of screening tests and their characteristics, answers to common questions, and evidence-based solutions and strategies for overcoming potential roadblocks.

Population genomic screening programs can face complex decisions as they launch and grow. Many begin as research programs or clinical pilots, using grant or pilot funds to pay for testing costs and giving patients a no-cost way to take part. Eventually, Roberts says, for population genomic screening to become routine medical care, these research programs will likely need to transition into clinical programs like UNC's PHGS. As clinical pilot programs, like UNC's, transition to their next phase of clinical implementation, patients may need to pay for these tests themselves or seek reimbursement from their insurance companies, which may not cover population genomic screening tests.

Understanding what costs and resources are necessary for population genomic screening—and how to develop sustainable population genomic screening programs that fit within existing care pathways—are some of the challenges the team hopes to address through their implementation toolkit.

Once developed, Roberts and her colleagues will pilot their toolkit at hospitals and research centers to see if it can improve metrics such as patient participation and program sustainability.

The hope is that this resource will help more providers offer this technology to more patients, more efficiently.

"This way," Roberts says, "healthcare providers aren't starting from scratch. They're building off the work that others have done to implement their programs and make them sustainable."