South Carolina Launches Statewide Population Genomics Initiative
Executives from the Medical University of South Carolina (MUSC) and a genomics company called Helix recently spoke with Healthcare Innovation about the launch of their partnership on a population genomics initiative in South Carolina called “In Our DNA SC,” which seeks to enroll 100,000 patients in genetic testing over the next four years at no cost to the patients.
Population genomics efforts are becoming more common. Besides the national NIH-sponsored All of Us research program, the State of Maryland recently announced the “All of Maryland” precision medicine initiative. Helix also has worked with Renown Health on the Healthy Nevada project and on Mayo Tapestry with the Mayo Clinic, said James Lu, M.D., Ph.D., CEO and co-founder of Helix. “We were excited about partnering with MUSC around the use of genomic technology to improve clinical outcomes as well as further discovery. We certainly believe that genomics is going to be the standard of care over time, so partnering with leading health systems that are exploring the use of that data in all the ways we can improve patient care is one of our key focuses.”
The initial focus of the South Carolina project is to identify certain forms of cancer and heart disease. The collected data will help MUSC deliver on population health initiatives and precision medicine, with the goal of improving health outcomes for South Carolinians through better preventative and proactive measures.
“We want to be leaders in precision health and precision medicine. We identified that we had some gaps in that space that we wanted to fill,” said Caroline Brown, chief external affairs officer for MUSC and MUSC Health. “One thing that was really important to us was launching a statewide population genomics program at no cost to South Carolinians, so that we can begin to help empower them with information to take more proactive approaches to their health. We realized that as the state's only comprehensive academic medical center, and with a connection to the state government as a quasi-state agency, that's very aligned with our mission.”
Brown spoke about the importance of making it a statewide initiative. “Having diverse populations and data to analyze is really critical to the outcomes and the research data set that you can build, and I think from an MUSC perspective, it was insufficient for us to think about this as just a regional or Charleston-based initiative, because we want to make sure that the patients who participate in the program are reflective of our overall population,” she said. “We have a significant African-American population in South Carolina, for instance, that has been historically excluded from a lot of opportunities to better understand their health. So, for us, it was a no-brainer that it would be statewide.”
Daniel Judge, M.D., is director of the MUSC Cardiovascular Genetics program and the fellowship director for Cardiovascular Disease at MUSC. “What we're excited about with Helix is that they're a CLIA-certified lab, so anything that's done at a research level, if it's got a clinical validation and a clinical use, we can issue a clinical report and have immediate benefits for our patients and participants,” he said.
Genetic counseling is a critical part of this effort, Judge noted. “MUSC has made recent investments and expansion in genetics. We've also partnered with the Greenwood Genetics Center, and that partnership is helping both programs. The hiring of genetic counselors is providing better interpretation and counseling surrounding clinical genetic testing.”
Another strength of this project is not just to help patients, but also to help clinicians become more familiar with genetics, what genetic reports looks like, and how they interpret them, Judge said. “As a clinician working in genetic cardiovascular disease, I have seen plenty of times when a clinician gets a report back and doesn't understand it and muddles through it, whereas with this infrastructure we are putting in place we can work to educate those providers.”
The goal is to hit 100,000 participants in four years. “We're working through a phased approach to hit those kind of annual milestones and targets,” Brown said. “We're going to start phase one with existing MUSC patients, work out all the kinks, make sure that the data interface and integration pieces are going well, and then we'll expand from there to community events where much like we've been doing with COVID-19 testing and vaccination where we pop up with a tent in a community at a local fish fry, or whatever the case may be, so that will come with time. Those kinds of outreach events will be really crucial to hitting that 100,000 target.”
Lu said Helix has found that deep integration with the clinical system is essential for closing the loop. “Part of that is to drive the personal value on the clinical side from a screening perspective. But secondarily, there's no point in screening people if you don't follow through. I think that has been a major problem with some of the consumer-initiated programs where you give someone the result and they take it to their physician, and the physician says, ‘What is this?’ The ability to support providers to make sure that we really do close that loop is going to be really important here.”
He said that in the Healthy Nevada project, with something like the first 30,000 people, the prevalence rate was roughly one in 75 people were carriers of a pathogenic mutation such as BRCA1 or familial hypercholesterolemia. “The most stunning thing was about 90 percent of them would have been missed in typical practice,” Lu said. “There is no other way to really identify them, because most people will not know their family history so that you can actually use that to help screen them or that data is not appropriately captured. So having this ability to drive important clinical findings for patients so they can get the right preventive care is important here.”
MUSC and Helix will be developing a robust clinical genomic data set from consenting participants to help researchers learn which can cause certain diseases. “Our strength is the data that we have in the electronic health record for these patients, and really where the rubber meets the road is when you can combine that with the Helix data from the testing,” Brown said. “Part of the partnership is figuring out how best to combine the strengths of MUSC data with the data that the Helix team is going to help us reveal through testing. Our teams are working through how we establish those connections and integrations.
Lu said Helix has been spending a lot of time the last couple of years building infrastructure around how do you not only put these data together, but how do you make them useful. “I think that driving analytics insight is really going to be a key part of not only this program, but ongoing discovery within the program, particularly as researchers from MUSC start to ask questions of the data. I think we're going to see this real acceleration in the ability to drive either novel diagnosis, novel screening, or even new ways we think about therapeutics."
