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Free DNA Test with MUSC’s In Our DNA SC

Advance With MUSC Health
August 22, 2023
Daniel Judge M.D.

Enrolling 100,000 Participants for DNA Testing

Imagine if a simple test could tell you if you are at an increased risk for heart disease and certain kinds of cancer. Then imagine you could do something about it. Imagine further that you may help alter not only your own health risks, but possibly those of thousands of South Carolinians and others nationwide.

That is the goal of the ambitious community health research project underway at MUSC. Launched in the fall of 2022, In Our DNA SC, is helping individuals who participate identify their genetic risks for certain cancers and health conditions before they need treatment.

One of only a few in the United States, MUSC’s In Our DNA SC seeks to enroll 100,000 participants in genetic testing over the next four years at no cost to the participant. In turn, participants will learn if they have a genetic risk for high cholesterol, or familial hypercholesterolemia, and hereditary breast and ovarian cancer or colorectal cancer. They can also get basic information about specific traits and their ancestry, including where their ancestors likely lived.

MUSC is partnering with Helix, a California-based genomics company, that works with several health systems across the United States that have launched similar projects.

“We’re not the only health system in the country who is doing something like this,” says Dr. Daniel Judge, a cardiologist and principal investigator for the In Our DNA SC community health research project, “but we’re striving for 100,000 people — about 2 percent of our state’s population. It is a high percentage, and that’s what makes it more ambitious. With a high number of participants, we can learn a lot that will advance clinical care.”

Although MUSC is not restricting enrollment to South Carolinians, they remain the primary focus.

Identifying Genetic Risks for Heart Disease and Cancer

“Two leading causes of death in our state and nationwide are heart disease and cancer, and we want to find people who are at high risk,” Dr. Judge says. “Knowledge is power, and here at MUSC we want to be able to prevent or mitigate these diseases.”

Our DNA is what makes us unique. Half comes from our mother and half from our father. The study will analyze participants’ DNA for genetic changes that may predispose someone to familial high cholesterol, breast and ovarian cancer and hereditary colorectal cancer.

“Every cell in our body follows direction provided by our DNA,” Dr. Judge says. “Changes in our genes can lead to problems, including cancer, heart disease, and other conditions that MUSC researchers and clinicians are targeting.”

Familial high cholesterol, breast and ovarian cancer, and colon cancer genetic screening are recommended for testing by the Centers for Disease Control and Prevention because they’re known as actionable conditions.

“If we find a specific gene abnormality for high cholesterol, we can screen and prescribe medication earlier to lower someone’s risk of heart disease,” Dr. Judge says. “Everyone has two copies of the BRCA1 and BRCA2 genes, and abnormalities in these genes can cause breast and ovarian cancer. Participants will find out if their BRCA1 and BRCA2 genes show any change. If a genetic tendency is noted for Lynch Syndrome, the name for hereditary colorectal cancer, we can find and remove polyps before they become cancer.”

Approximately one in 75 participants will have a positive result from the screenings. Each one will have access to an appointment with a genetic counselor virtually or by phone at no cost. Participants’ genetic and health history information will be available for their clinical care and research in the long term.

“We want to make sure that people are given the right guidance and specialized recommendations. No one will be left without the right counseling if they have a positive result,” Dr. Judge says.
Because the research project provides screening results for genetics, the test results provide only a “yes” or “no” answer about someone’s genetic risk for the specific diseases.

DNA's Role in Clinical Care and Research

“If someone has other risk factors, such as smoking and diabetes, we’re going to emphasize the importance of modifiable risk factors,” he says. “People can’t change their DNA, but they can stop smoking or get their blood pressure under control.”

He says now is the time for DNA to have a key place in clinical care and research.

“The full sequence of the human genome that was made 20 years ago hasn’t had the impact that scientists and the medical community thought it would have,” he says. “It was too expensive, and people didn’t know what was normal and abnormal. Since then, however, DNA research has gotten easier, less expensive, and better. Revolutionary advances such as gene therapy and gene editing are having an impact. Now DNA is ready for prime time and ready for use to improve research and clinical care.”

Pharmacogenetics, the link between someone’s genetic makeup and their tolerability of certain medications, will be among the clinical applications to come. “This is a huge advance, particularly in the area of mental health and certain other medications,” Dr. Judge says. “Based on their DNA, we can determine the right medication for someone.”

Around 5 percent of people who have been given codeine have a strong reaction to it, and some patients don’t respond to Plavix, a blood thinner. Having that information readily available is a major step in patient care, he says.

The project, which is expected to last four years, originated at MUSC’s highest level of clinical and academic leadership.

Dr. Patrick Cawley, MUSC Health CEO and Executive Vice President for Health Affairs, and Dr. Lori L. McMahon, Vice President for Research, decided that MUSC, as the state’s only academic medical center, should expand its work in genetics because of its impact on research and clinical care, which are central to MUSC’s mission and the health and well-being of the population we serve,” Dr. Judge says.

Strict protocols are in place to protect privacy and maintain confidentiality. We take great care to keep your information safe and secure and will not share personal data beyond what you have consented to. Participants’ identifiable information associated with their DNA is removed before it can be accessed by non-MUSC researchers, who will be able to study whether other conditions, such as high blood pressure, have a genetic link.

The benefits of participating are greater than the risks, Dr. Judge says. Genetic information can’t be used against people for employment and health care. It can, however, be considered by life insurance companies.