In Our DNA SC: South Carolina’s First Population Genomics Initiative Hits 50,000 Participants

Back in 2021, MUSC and Helix, a leading population genomics company, launched an ambitious new program called In Our DNA SC, which is the first-of-its-kind population genomics initiative in South Carolina.

By participating in In Our DNA SC, a community health research project, a participant will learn if they have inherited certain risk factors in their DNA. A participant’s family history alone, or standard medical screening tests, does not always identify risks for these conditions. Specifically, the test will tell a participant about their genetic risk for the following three conditions:

• Familial hypercholesterolemia (FH): A hereditary form of very high cholesterol that causes heart disease at an earlier age than the general population.
• Hereditary breast and ovarian cancer (HBOC): A hereditary form of breast and ovarian cancer specifically linked with abnormalities in the 2 most common genes (BRCA1 and BRCA2).
• Lynch syndrome: The most common cause of hereditary colorectal (colon) cancer, people with Lynch syndrome are more likely to get colorectal cancer, and at a younger age.

The program's goal is to enroll 100,000 patients at no cost to the participants. A little less than three years into the program, In Our DNA SC has hit a significant milestone: over 50,000 people have signed up.

Finding Cancer Early

Historically, genetic counselors typically see individuals who either have a personal or family history of cancer,” Charly Harris, a genetic counselor at MUSC’s Hollings Cancer Center, says, “so that way we can assess those histories to help them figure out if there is a need for genetic testing and then we can discuss the background information. We discuss [with the patient] how cancer can pass down through families, what genetic testing can test for, what these test results can identify, and how we take these results and interpret them to make changes. We also discuss the different types of results and make sure that they're comfortable with moving that process forward.”

However, population screening, such as In Our DNA SC, is different as participants test first and then can speak to a genetic counselor in relation to their results. “One to two percent of people that participate [in In Our DNA SC] are [identified as] positive or have a pathogenic [or likely pathogenic] variant for hereditary breast and ovarian cancer, Lynch syndrome and familial hypercholesterolemia,” says Harris. “So if people have an identified variant, we share that information with them and offer free genetic counseling so the individual can hear more about the condition affiliated with their variant and prevention activities.”

As a genetic counselor, Harris is key to the transition from In Our DNA SC's research component to clinical care.

The Changing Role of Genetics In Cancer Prevention

The In Our DNA SC program is really a community-minded outgrowth of relatively recent advances in genetic testing.

“Genetic testing has certainly come a long way,” says Dr. Caitlin Allen, an assistant professor at MUSC in the Department of Public Health Sciences with expertise in precision public health initiatives. “It wasn't that long ago that the whole human genome was sequenced. It was in the early 2000s when we had the ability to even sequence and know about all of the elements of DNA. That was only 20 years ago.”

“Putting that on a historical timeline is always helpful,” Allen adds. “I think it is pretty impressive and amazing how quickly we have been able to provide access to genetic testing for clinicians and patients. And to do that in a no-cost way is really amazing; it probably took millions and millions of dollars to sequence the human genome and now we can run a genetic test very quickly.”

And in the In Our DNA SC program specifically, Allen says there’s a real shift in the approach to genetic testing.

“In a lot of ways the program and population-wide screening in general are flipping a paradigm,” she says. “We’re viewing genetic testing as a preventative activity, where typically it's often been viewed as something that happened after disease onset. So, I think the prevention component is unique and powerful.”

How It Works

Allen says that the process is very intentionally easy to begin for a patient.

“Participants are able to sign up through the In Our DNA SC website, [where they also have access to] information [about the program],” says Allen. Participants are able to participate in three main ways: in a clinical setting, at a community event, or by electing for an at-home kit.

From the clinical setting route, there are multiple participating MUSC clinics that are able to collect samples from their patients who have an appointment and numerous participating MUSC labs that are able to facilitate walk-ins. Participants are able to provide their sample at one of our community events which occur across the state.

Once a sample is provided, “our partner lab, Helix, sequences the sample and provides individuals with their results. The majority of people are actually negative; they don't have a variant for hereditary breast and ovarian cancer, Lynch syndrome or familial hypercholesterolemia,” Allen says.

And if they test positive for a pathogenic or likely pathogenic variant?

“If people are identified with a variant, we give them a call and share that information with them,” Allen says, “and we also offer free genetic counseling so that individuals can hear more about their condition and prevention activities.”

Why These Specific Cancers?

The program focuses on a handful of conditions for a reason. The concentration on hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia are classified by the Centers for Disease Control and Prevention (CDC) in a certain category that is “actionable.”

“Those three conditions are called CDC Tier 1 conditions,” Allen says. “These are conditions that have been endorsed by the CDC as being actionable, meaning that if we identify someone with a variant that increases their risk [for one of the conditions], we could do something about it. There's a balance of making sure that we are providing actionable information and not just providing information to people that they can’t do anything with.”

Reaching 50,000: What Does It Mean?

Allen says that reaching the halfway point of the participant goal isn’t just some imaginary yardstick but an exciting harbinger of what In Our DNA SC can accomplish.

“I think the numbers are really important in many ways because we want to make sure that we have a large group of people that have participated,” Allen says. “I think we had a slow and steady start, but then the public became more familiar with the In Our DNA SC program, and a trust developed between the public and the program. It’s just taken time to build those relationships.”

Plus, the bigger the pool of participants, the better the representation of the state’s populace and, subsequently, the more precise the care.

“The more participants we have, the better,” Allen says. “We are very focused on ensuring that the participants that we have are representative of our state socio-demographics. That includes race, ethnicity and age distribution across the state, and our focus is on how we can make sure that the program is accessible to everyone in the state and that those 100,000 people are truly representative of our state populations.”

Genetic Screening From The Patient’s Perspective

The testing is done through a saliva sample that the In Our DNA SC program can easily facilitate. Once the results are in, and genetic counselors like Charly Harris arrange to speak with the patient, part of the process is educational.

“We might have a little bit of a backward motion, looking at and discussing how genes work,” Harris says. “How are they inherited? Where did this come from? What did the testing look at? And then we discuss their specific result. What are their risks? What do these risks mean for them? How can we manage that? What are their next moves in terms of management and risk reduction?”

It also helps to explain the process of testing in the simplest possible terms so that the patient understands what the methodology is.

In Our DNA SC: Breakthroughs?

With about half of the 100,000 enrollment goal still to go, it might be too early to talk about any major breakthroughs that In Our DNA SC has uncovered, but Harris says there’s certainly plenty of information to study to find that elusive big step forward.

“I'm hoping that with the study, a lot of the data we get will help guide some of the things we can figure out,” Harris says. “I think that a lot of the individuals that we've seen have really changed our perspective, at least from a genetic counselor’s point of view, as to who should have access to testing and who should be offering testing, and it gives us a little bit of perspective on what that risk really looks like. So it's interesting to think about where that goes in the future in terms of management and treatment and risk assessment.”

Allen adds that reaching 50,000 patients participating in the program has kickstarted some new approaches that might result in a breakthrough or two down the road.

“I think we're continuing our progress from the 50,000. We do have some new initiatives and strategies that will be taking place over the next year that are really focused on our diversity, equity and inclusion goals,” Allen says. We’re thinking about and acting on ways that we can improve the reach of our representativeness of the people who are participating. So that includes being out in the community more and partnering with community health workers at MUSC who are often working with diverse populations.

And it’s worth noting that the program has worked some innovation into its own DNA, if you will.

Allen says, “We’ve been using pharmacogenomics, which is a great example of how the In Our DNA SC project can help drive precision-based approaches.”

And what is pharmacogenomics, exactly?

“Pharmacogenomic testing basically allows for us to match people with the right drug,” Allen says. “So by casting for certain genes we can provide a drug based on the recommendation of their genetic makeup.”

Rewarding Work

As In Our DNA SC moves through its third year, both Allen and Harris have found the process helpful for their patients, obviously, but to themselves as well.

“For me, the most rewarding part of the job in general has been definitely getting to know my patients,” Harris says. “They are sometimes at the worst point of their life, and yet they are some of the kindest people, and they just make your whole day better. They’re some of the bravest people you will meet, and to help make their day just a little bit brighter makes my day brighter. So anytime that I can make them feel like human beings during some of their worst moments just makes my whole day.”

“And all the providers out there want to do that,” Harris continues. “If for one moment we can make them forget that they are going through all of that and we can just talk and they can feel like they have something they can hold on to, whether it's a negative test result and they feel that peace of mind or if it's a positive result and it's something they can really empower themselves to make some decisions.”

“I think on a personal level, it's really pretty amazing what we've been able to do,” Allen says. I just feel so proud of the team, and of the work that has gone into the project. There are dozens and dozens of people who have worked on In Our DNA SC to make it successful. It's just a point of pride personally, and I also think it's a point of pride that MUSC has been able to stand up this type of program and do it as successfully as quickly as we've done it. I’m just really proud of the team and the wonderful work that they've been able to do.”