When Anwar A. Chahal, MD, PhD, MRCP, FACC, FESC, joined WellSpan Health in August 2020, he had a vision of what an expanded cardiology program could look like. Although the future of medicine is, well, the future, Dr. Chahal says he envisions advances in technology where genomic and precision medicine can hopefully create better outcomes for patients. 

“To paraphrase one of the modern-day fathers of cardiology, Dr. Eugene Braunwald, from a presentation last year: ‘The cardiologist of 2022 reads ECGs, looks at an echo, looks at angiograms, makes a diagnosis — they treat disease — whereas the cardiologist of 2032 will combine genomics, precision medicine, and artificial intelligence — they will intervene to prevent disease before it happens, as well as tailor personalized treatments,’” says Dr. Chahal, who is Director of the Center for Inherited Cardiovascular Diseases at WellSpan Health. 

Three years later, WellSpan Health is on the cusp of launching the new Gene Health Project at WellSpan Health, a partnership with the population genomics technology company Helix. The community health research program will ideally improve research along with patient care, at no cost to patients. 

“At WellSpan Health, we want to be on the leading edge of what we’re able to offer to our patients, providing first-class clinical care in a local setting,” Dr. Chahal says. “And the way things are evolving in health care, genomic and precision medicine is the future.” 

“Community volunteers who participate in this research program will be helping us develop the future of medicine,” adds David Kann, MD, MPH, FACC, FNLA, Medical Director of Precision Medicine at WellSpan Health. “As a benefit, participants will also learn more about their own genes.” 

The Need for Genomics 

Dr. Chahal is a cardiologist, cardiac electrophysiologist and inherited cardiac disease specialist with a focus on cardiomyopathy, sudden death syndromes, arrhythmias and aortopathy.  

“I was hired because I had been told there was a large demand for the type of medicine I practice,” Dr. Chahal says. “I didn’t believe the demand was going to be quite as high as people said. I was wrong!” Like the rest of the country, south central Pennsylvania has a high rate of heart disease, but it also has higher rates of certain cardiac conditions due to the unique makeup of its population. 

“Long QT syndrome is considered a rare disease affecting one in 2,000 people, but in the Amish communities here, it’s one in 45, which is astonishing,” Dr. Chahal says. “Then you have dilated cardiomyopathy, which affects 1 in 250 people, hypertrophic cardiomyopathy, which affects 1 in 500, and atrial fibrillation, which affects 1 in 50 — some of which can be familial. If you look at our 2.2 million patient population that WellSpan Health serves, that means there’s an enormous number of patients who have these conditions and who need our services.” 

Many of these conditions can be genetic — thus the need for a precision medicine and genomics program. “If you can detect some genetic variants, the adage goes, ‘If you find one, you find eight,’” Dr. Kann says. “If we are able to find one patient, we may also be able to help the patient’s family.” 

Dr. Kann, who has a background in treating dyslipidemia and experience in managing genetic lipid problems, joined WellSpan Health in February 2021 to help launch the nascent precision medicine team. “Genetic testing can be expensive, and not every health insurance plan covers it,” Dr. Kann says. “You also need expertise on the other side of the testing to know what to do with all that information.” 

So, the team began to look for a strong outside partner. After more than two years of research and meetings, in December 2022, WellSpan Health selected Helix to help create a comprehensive population genomics program. “Helix is ahead of the curve in offering whole-exome sequencing, which is a huge benefit,” Dr. Chahal says. “Having engaged with their leadership team, we’re really excited to partner with them.” 

Neither Well Span Health nor Drs. Chahal and Kann have conflicts of interest or other relationships with industry partners that affected the selection of Helix. “We want to make that clear,” Dr. Chahal says. “We don’t provide consultation with any major healthcare organizations or vendors, which keeps us neutral in terms of when we pick which organization we’re going to move forward with.” 

Sequence Once, Query Often 

Helix was the first company to receive FDA authorization for its sequencing platform in 2021, with coverage of around 20,000 genes. Its trademarked Sequence Once, Query Often™ model ensures WellSpan Health volunteers who wish to participate will have only one sample collected for genetic testing. “The idea here is that if we sequence a volunteer’s entire genetic code, we have the de-identified information for research, and it’s stored digitally and easily accessible by clinicians using the electronic medical record for the rest of the volunteer’s life,” Dr. Kann says. 

How will this approach affect patient care? Take a 35-year-old man with no known health problems who signs up for The Gene Health Project at WellSpan Health when it launches later this year. Five years from now, he receives a diagnosis of dilated cardiomyopathy. 

“Around 90% of non-ischemic dilated cardiomyopathy cases tend to be genetic, and mutations are often private to the family,” Dr. Chahal says. “Normally, we’d need to collect a new sample to order clinical genetic testing at this point. But because of this partnership with Helix, we can then query that sequence to look at the genes of interest and get a report back.” 

To continue the example, the same patient has issues with high cholesterol a few years later, despite a heart-healthy diet and plenty of exercise. Another electronic medical record query into that patient’s genes may give additional information. “Instead of waiting on additional lab tests, we’re taking it in a different direction, with a gene-first approach,” Dr. Kann says. “We will now be able to query the data we already have instead of obtaining another sample.” 

A Benefit to Providers and Their Patients 

The Gene Health Project at WellSpan Health will open for patients later this year. Initially, the genetic screening offered at no cost to participants who enroll will be limited to detecting genetic risk for CD Tier-1 conditions which include hereditary breast and ovarian cancers, hereditary colon and other cancers associated with Lynch syndrome, and some types of cardiac disease, including familial hypercholesterolemia. As additional biomarkers of genetic conditions are identified in the future, the range of diseases they screen for may expand. 

Direct-to-consumer genetic testing already exists, but the Gene Health Project at WellSpan Health goes beyond cost-savings for patients and providers. “Already patients are going to their primary care providers and saying, ‘I took this test, and it said I have a polygenic risk score putting me at risk for a heart attack, and what does that mean?’” Dr. Chahal says. “This partnership is a way for our allied health professionals to embrace this change in medicine without additional work on their end.” 

A future benefit to community providers will be the ability to use genetics in their practice. And while area providers will be encouraged to tell interested patients about the project, they are not expected to do the work alone. “I want any of our colleagues who already feel overburdened to understand that we are not trying to put extra work on you — we’re here as an inclusive team,” Dr. Chahal says. “We follow the WellSpan ethos of ‘working as one,’ and we want everyone to feel part of this family.”  

Ongoing Research Benefits 

Ultimately, The Gene Health Project at WellSpan Health will offer more than letting participants know their individual or family risk for certain diseases.  

“It’s a project that will benefit the entire community without repeated blood draws, because all of that data will be securely stored,” Dr. Kann says. “Eventually there will be trillions of bits of data that can be used to learn about new drugs and diseases, and possibly prevent them earlier.” A participant’s own genetic data will be available for future use, because their consented, coded and HIPAA-protected data will be stored with Helix. 

“Around 10 other institutions around our size are doing the same thing,” Dr. Kann says. “Because we’ll be working together, we’re expecting great things in terms of discoveries.” 

As the project progresses, the precision medicine team hopes to expand the scope of research beyond the initial list of conditions. 

“For example, we may look at hypertrophic cardiomyopathy and long QT syndrome, both of which are associated with atrial fibrillation, heart failure and sudden death,” Dr. Chahal says. “Identifying these genetic risks early on could prevent significant comorbidities, and we might identify new pathways that could then lead to new drug discovery.”   

Have more questions? Call 717-356-5395 or email us at genehealthproject@wellspan.org.