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BECKER'S HEALTHCARE | ADVENTHEALTH How to deliver better care with genomics — Insights and best practices from AdventHealth's Research Institute AdventHealth, headquartered in Altamonte Springs, Fla., operates healthcare facilities in nine states. Whole-person care based on individualized and precision medicine is one of the health system's top values. Driven by this value, AdventHealth is working to unlock the power of genomics to diagnose and treat patients more effectively. Becker's Hospital Review recently spoke with Rebecca Essner, PhD, senior researcher at AdventHealth Research Institute, about AdventHealth's WholeMe research study and how the organization has woven genomics into several areas of patient care. Population-based genomic testing research: the first stage in engaging the community In 2019, AdventHealth began its journey into genomics and personalized health by launching the WholeMe population-based research study. The goal was to better understand patient and physician reactions to genomic testing and genetic insights. "Our objective is to take genomics research and eventually make it part of the standard of care. However, with any new technology or modality, it's essential to test it to understand the best implementation strategies," Dr. Essner said. "That's why we decided to conduct the WholeMe study." Anyone 18 or older was eligible to participate and around 7,200 individuals enrolled. The AdventHealth team provided participants with genomic insights related to their health and then tracked how these insights informed their decision-making. Phase one of the study focused on familial hypercholesterolemia (FH). "Four genes are associated with 70 to 80 percent of FH cases," Dr. Essner said. "This condition causes extremely high cholesterol and premature heart attacks. We thought this was an important place to start to mitigate adverse events from happening." In the study's second phase, the team analyzed the rest of ACMG 59 gene panels to provide these same participants with additional genetic insights. The American College of Medical Genetics and Genomics has deemed the 59 genes in this panel as medically actionable to alleviate symptoms or conduct early risk detection. Study participants were given access to a care navigator and individuals with pathogenic results had access to genetic counseling and medical professionals. "If an individual had a pathogenic variant associated with FH, potential next steps would be to order a cholesterol test and seek care from a cardiologist," Dr. Essner said. "Even if participants didn't have pathogenic results, care navigators helped them learn more about their health and wellness. Our goal was to help people identify services they needed and integrate them as best as possible." Genetic testing is transforming patient care across AdventHealth For families expecting a child, AdventHealth offers extensive genomic screening to see if parents are carriers for different genetic conditions. Noninvasive prenatal testing is also an option. For vulnerable neonatal and pediatric populations, the clinical utility of rapid whole-genome sequencing is well established. In response, AdventHealth has deployed this technology in its NICUs and PICUs. "When a child is unwell, parents don't want to see their child endure several procedures or testing," Dr. Essner said. "Rapid genome sequencing is a way to quickly get back results that confirm or rule out genetic conditions in one step. This has led to fewer surgeries, less invasive procedures and often faster discharge from the hospital. It has also lowered the cost of care for families." In the behavioral health space, AdventHealth launched a six-month pharmacogenomic clinical pilot to provide genetic testing to patients who take medication for depression. With depression, many drugs have shown benefit from pharmacogenomic testing, since certain genetic markers are associated with metabolism of those medications. "Based on the findings of their pharmacogenomic panel and genetic makeup, our physicians changed the medication regimen for 78 percent of the population tested during the pilot," Dr. Essner said. "The goal is to mitigate their symptoms, improve their quality of life and lower the cost of care by reducing ER visits or return trips to the hospital due to ineffective medication." AdventHealth also offers genetic counselors and genetic testing for adults with a family or personal history of cancer. Counselors complete evidence-based risk assessments to determine whether patients qualify for additional screenings, ultrasounds, genetic counseling or genetic testing. Successful genomics deployments require a solid IT infrastructure, dedicated human resources and trusted partnerships AdventHealth believes how it deploys genomics is just as important as where. The IT infrastructure is one key to success. "Providing physicians with clear, actionable data is critical. As evidenced by the WholeMe study, creating databases of clinical and genomic information to contribute to future learning is essential," Dr. Essner said. Staff members such as medical geneticists, genetic counselors and care navigators are all contributors to program success. Medical geneticists facilitate care plans with the clinical specialties, while genetic counselors handle the pre-testing counseling to determine whether insurance will pay for testing. This ensures patients avoid high out-of-pocket expenses. When tests yield positive results, care navigators help individuals navigate complex care plans. Partnerships are a third component of successful deployment of genomics. AdventHealth turns to trusted partners for sequencing and genetic interpretation, as well as for its risk assessment platform. Genomics is evolving so rapidly that not everything can be done in-house. "It's an exciting time," Dr. Essner said. "Based on a person's genetic makeup, we can identify the best medications and gene therapies and offer more personalized care. I'm excited about what we'll do next." To learn more about Genomics and Personalized Health at AdventHealth, visit AdventHealth.com/genomics.