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WellSpan participates in population genomics project 

September 28, 2023

Goals are to improve health, provide personalized care, and uncover risks 

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Two WellSpan team members who are participating in the Gene Health Project are Sonia Thomas (left), a genetic counselor with WellSpan Maternal-Fetal Medicine, and Becca Eberly, the lead research nurse coordinator for the project.

Two WellSpan team members who are participating in the Gene Health Project are Sonia Thomas (left), a genetic counselor with WellSpan Maternal-Fetal Medicine, and Becca Eberly, the lead research nurse coordinator for the project.

What if you could participate in a research project that will change the future of medicine, not only helping science but ultimately preventing disease? 

WellSpan is asking the community to do just that.  

WellSpan is joining with other health care systems – spanning, for now, more than 30,000 medical professionals and almost 500,000 patients from across the country in 10 health systems – partnering in a research project with a company called Helix, a leading population genomics company that works to enable health systems, public health organizations, and life sciences companies to accelerate the use of genomic data into patient care and public health decision making. 

Over the next four years, WellSpan will recruit at least 100,000 volunteers age 18 or older to participate in The Gene Health Project at WellSpan. Participants will provide a vial of blood, from which a DNA sample will be collected and analyzed by Helix. 

Initially the testing will focus on what the U.S. Centers for Disease Control has identified as “Tier 1 conditions,” because early detection of those diseases could significantly reduce deaths and illness. Nearly 2 million people in the United States are at increased risk for adverse health outcomes because they have genetic variants that predispose them to these conditions, which include: 

  • A hereditary form of very high cholesterol known as familial hypercholesterolemia, which causes heart disease at an earlier age than is found in the general population. 
  • A hereditary form of breast and ovarian cancer syndrome, specifically the BRCA1 and BRCA2 genes. 
  • A hereditary type of colorectal cancer known as Lynch Syndrome. 

“We believe understanding what makes each of our patients unique is key to providing the most personalized, high-quality health care outcomes possible,” says Dr. Anthony Aquilina, executive vice president and chief operating officer of WellSpan Health. 

This precision medicine research project is designed to integrate genetic insights into clinical care and research. Through analysis of the aggregate research gathered through the project, providers and scientists will be a step closer to learning the root causes of many diseases and the most effective treatments for them. It may also allow providers to tailor the care of many patients and better understand the health of the region. 

“I tell my patients that they may help advance science and help make discoveries that will benefit others,” says Dr. David Kann, medical director of  precision medicine at WellSpan. “This project will collect trillions of pieces of data that will enable us to do research to understand disease, treat disease earlier, and develop medications that are tailored to specific conditions.” 

Tier 1 DNA results for each patient will be integrated into their electronic medical record, accessible to their personal physicians for the purpose of personalized treatment plans.  

The project first recruited participants from the WellSpan team. The system now is reaching out to 10,000 WellSpan team members and patients each week with an invitation to participate in the Gene Health Project. Blood sample collection can be done conveniently at any WellSpan lab. There is no charge to the volunteers for this testing. 

An extra benefit of the project is that participants also can learn about their regional ancestry and personal traits like gluten tolerance, caffeine sensitivity, and more, through the testing. 

Two early enrollees from Lancaster County are already deeply involved in the project and keenly interested in the results, both for personal and professional reasons. Sonia Thomas is a genetic counselor with WellSpan Maternal-Fetal Medicine in Ephrata. Becca Eberly is the lead research nurse coordinator for the project. 

“When this came along,  I jumped at the chance,” Eberly says. “I am a WellSpan patient so if something came back positive on the screening, I have local physicians I can connect with and I know I can get the care I would need and want. I also have two young children at home and thought it was important to know for them, so they could get the care they might need down the road.” 

Both Eberly and Thomas had negative results for the genes in the Tier 1 conditions included in the project testing. Only about 1% to 2% (1 or 2 people out of 100) will be found to have a risk for one of these conditions. 

Thomas is excited to see the future of genomic medicine. During the nine years she has been a genetic counselor, she says the testing possibilities have advanced quickly due to genetic science. A simple example: when she first started, expectant couples used to have to wait 20 weeks to find out the gender of their baby via an ultrasound. That time has been cut in half, to 10 weeks, when a mom can have a blood test that looks at the baby’s DNA, which reveals the baby’s gender. 

​While the Gene Health Project is focused on adult screening, not prenatal results, t​his work will further expand what physicians can test for and discover in patients, she believes, improving care for all. 

“We may be carriers for genetic variants that make us predisposed to developing health concerns. However, we may not even be aware of it,” Thomas says. “With this work, we may know very early what to expect and start proactive surveillance and monitoring measures or even start treatment early.” 

Due to the wide swath and large number of participants from across the country, the research project has the potential to vastly change the way medicine is practiced, Eberly says. 

“They can look at trends and make correlations between a patient’s health history, their lifestyle, and their results on their genetic sequencing and learn from that and advance medicine,” she says. “What we are doing is moving medicine from a reactive state to a preventive state.” 

To sign up and get more information on the Gene Health Project, go here.