At Atlantic Health System, precision medicine is no longer a concept of the future—it’s happening now. From early detection of rare genetic diseases to customizing medication plans based on a patient’s unique genetic needs, Atlantic Health is working to embed the usefulness of genomics directly into its EHR. The goal: empower physicians to make more informed decisions that lead to better outcomes.
Atlantic Health System is part of the AMA Health System Member Program, which provides enterprise solutions to equip leadership, physicians and care teams with resources to help drive the future of medicine.
“One area it’s really helpful is in the world of identifying rare genetic conditions,” said Darius Adams, MD, a physician specializing in clinical biochemical genetics and director of personalized genomic medicine and pediatric genetics at Atlantic Health System.
“Not only is there a lot of diagnostic value in that, but we have an ever-expanding array of therapeutic options that we can use to treat these conditions,” said Dr. Adams. “And certainly, treating earlier is better in a lot of cases.”
That philosophy underpins Atlantic Health System’s rapidly growing genomic program. Since 2013, the health system has expanded its team of genetic counselors, drawing from experts in specialties such as maternal medicine, oncology and cardiology.
“Genetics and genomics are gradually expanding out into too many subspecialties as genetic and genomic information become more helpful for clinical management of patients,” Dr. Adams said.
Embedding genomics into the EHR
Until recently, physicians had to sift through static PDF reports to locate genetic testing results—a cumbersome process that took precious time away from patient interaction and providing meaningful care. But Atlantic Health System is changing that by integrating a genomics module into their EHR.
“We’ve been working on an Epic genomics module, which is a really wonderful platform that will allow us to obtain discrete genomic data from our lab partners,” Dr. Adams said.
Instead of wading through paperwork, physicians will be able to access searchable, actionable genetic data at the point of care.
“By utilizing the Epic genomics module, we're able to connect directly to our testing partners,” he said.
The implications of this go far beyond convenience. With searchable pharmacogenomic data integrated into the EHR, physicians can get real-time alerts when a drug may not be effective for a specific patient based on their genetic makeup.
“If they're at high risk, then we can present an alert to the ordering prescriber right at the point of ordering,” Dr. Adams said. “Every physician going forward at Atlantic Health will be able to access that information and the physicians will know which medication might not work as well.”
Better data, better care
The ability to match medication with a patient’s genetic profile could reduce adverse drug reactions and improve treatment efficacy. This practical and useful aspect of genomic medicine is leading to wider adoption. The Food and Drug Administration (FDA) is already incorporating pharmacogenomic guidance into drug labeling, a move Dr. Adams views as a validation of the direction Atlantic Health is taking.
“The FDA is looking more and more at pharmacogenomic interactions with new medication approvals and even has revisited some medications that have been around for quite a while,” he said. “They have placed alerts on the prescribing information indicating that pharmacogenomic testing should in fact be done in some cases with these medications to make sure of their efficacy. That’s an exciting part of what we can do with a genomics module.”
By using genomic data to identify patients at high risk for certain conditions—such as elevated LDL cholesterol—Atlantic Health System can recommend earlier screening or tailor treatment plans accordingly.
“This type of alert is one way that doing more broad-based screening based on lab values to see how genetic testing can be helpful and beneficial to managing patients’ overall conditions,” Dr. Adams said.
Atlantic Health System plans to launch this genomics capability initially with more common conditions seen in everyday care.
“Initial implementation, we're going to be looking at more common genomic indications for people in our community and through our Atlantic Health providers,” Dr. Adams said. “But that’s different from what we do in the rare disease space. That involves a different clinical approach where we have a dedicated consultation service where individuals with rare conditions can be further evaluated. There we can leverage genomic testing to try to end diagnostic odyssey.”
Fewer adverse reactions
Early research has shown that individuals who get pharmacogenomic testing later have fewer interactions with hospital systems, particularly in the emergency departments, according to Dr. Adams.
“In some cases, individuals may be on a set of multiple medications to treat a specific condition,” he said. “By looking at pharmacogenomic risk assessments, we can maybe find out and discover certain medications may not be working as well as we had hoped.
“That information can then help us tailor the regiment to highlight more efficacious medication,” Dr. Adams added. “There is literature out there that shows that there are health care savings, and reduced side effect from medications through these approaches.”
To ensure its success, Atlantic Health System will track key performance indicators, validating the technology's value for both patient outcomes and cost savings.
As of now, the genomics module has been added to Atlantic’s EHR system and is undergoing ongoing refinement.
“Our hope is later this year, we'll have gone through the agreement process, and we'll be able to make that testing available to physicians at Atlantic Health,” Dr. Adams said.
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Who benefits—and how
Initial candidates for genomic testing will include patients with known medication issues, side effects or treatment failures. Over time, Dr. Adams envisions a much broader application.
“One could envision that when one sees their primary care doctor for the first time they may want to go ahead and get some testing done in this regard,” he said. “So that as medications are prescribed, that information will be available to be utilized not only by the primary care doctor, but maybe any specialist that the patient sees going forward.”
Psychiatrists at Atlantic Health System have already embraced pharmacogenomic testing.
“They have found it to be a very useful tool to help get their patients to treatment as quickly as possible,” Dr. Adams said.
To make things easier for physicians, ordering tests will be seamless in the EHR.
“There won't be any need to go digging through the record. This will all happen on demand,” he said. “If alerts appear, they’ll include links to reference materials, and physicians can consult with the genomics division or a trained pharmacogenomics pharmacist for additional support.”
Proving the power of genomics
Atlantic Health System has already demonstrated how genomic knowledge can change lives. The organization played a critical role in proposing spinal muscular atrophy for inclusion on New Jersey’s newborn screening program—a decision that directly improved early diagnosis and treatment.
“Because of our participation with the state, we were able to propose the idea of putting spinal muscular atrophy on the newborn screen,” Dr. Adams said. “Particularly for that condition there can be progressive loss of spinal motor neurons. And so, the sooner you can get treatment started the better.”
Atlantic Health System has also contributed to clinical trials leading to FDA approvals, including for phenylketonuria—a metabolic condition that can be managed through strict dietary control.
“Our metabolic dietitian is a critical team member,” Dr. Adams added. “We have an array of tools going from dietary interventions to small molecule targeted therapeutics, all the way to gene therapy.”
Building a future on data
As more genomic information is gathered, interpretation becomes increasingly accurate. Thanks to evolving classification systems, physicians can better identify which genetic variants are likely to be harmful.
“A classification system was developed where we could designate benign or conversely likely pathogenic or pathogenic findings,” Dr. Adams said. “If we had a lot of data that a given variant was disease-causing, we would call it pathogenic.”
Atlantic Health System now regularly performs trio testing—analyzing a patient’s DNA along with that of their parents or other relatives—to clarify uncertain results.
“That can be very, very helpful in giving us additional information as we find these ultra rare genetic changes,” he said.
With every test and every patient, the Atlantic Health genomics program becomes more effective. The long-term vision is a fully data-informed healthcare model, where physicians not only react to symptoms but anticipate them and provide the most specific care, fueled by insights coded into each patient’s genome.
And it all starts with making that information visible—right in the EHR.
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