Getting diagnosed with a disease can be scary. Health providers work to find the right treatment plan based on the current standard of care guidelines. But what if in addition to the current evidence, doctors could also factor in each patient’s unique genetic makeup to help them diagnose more quickly and accurately, create a tailored treatment plan, or better yet, learn which patients are at a higher risk for developing specific diseases and employ methods for prevention or earlier detection? That’s the hope of genomic medicine, but researchers and clinicians are still gathering more evidence of its effectiveness before it can be widely implemented.
The IGNITE II Network is looking to provide some of that evidence.
IGNITE II, or Implementing GeNomics In pracTiCe, is a five-year project funded through the National Human Genome Research Institute (NHGRI). The IGNITE Network is comprised of a coordinating center and five multi-site clinical groups from Duke, Mt. Sinai, Vanderbilt, University of Indiana and University of Florida.
In order to provide the evidence that this type of practice will improve patient outcomes, the network will conduct 2 – 3 large, network-wide genomic medicine pragmatic clinical trials (PCTs). These PCTs are focused around family health history, genetic risks for common chronic diseases and pharmacogenomics. PCTs are different than randomized controlled trials, or RCTs, which are considered the “gold standard” for clinical trials. RCTs are great for studying the effectiveness of a treatment, but PCTs allow for bigger, more efficient clinical trials and help researchers and clinicians understand what to expect in real-world clinical settings.
Building a platform
Duke was selected to serve as the coordinating center for the IGNITE Network, a five-year, $5 million center supported by NHGRI. The coordinating center is led by the Center for Applied Genomics and Precision Medicine (CAGPM) Director Geoff Ginsburg and the Associate Director of the Duke Clinical Research Institute (DCRI) Hrishikesh Chakraborty and will serve as the central resource hub for the IGNITE Network.
The team will be responsible for establishing an infrastructure that engages network partners to advance the science of genomic medicine in diverse practice environments. The collective expertise of members in the coordinating center will assist the clinical sites as needed and help them problem solve and adapt their PCT projects to ensure their success.
A goal of the center is to not only foster collaboration within the network but also outside of the network. They hope to become the knowledge hub of genomic medicine and help promote the value and importance of genomic medicine in clinical settings.
“As the coordinating center for this national network, we will create the genomic medicine knowledge base where ideas can be shared so that everyone can begin to use this in practice, whether in community clinics or academic medical centers,” Ginsburg said.
Cultivating a flame
CAGPM’s Lori Orlando also received a five-year grant from NHGRI to be a part of the IGNITE network. Her research project on family health history is being considered for one of the PCTs in the network.
“Family health history is the most important and most readily available predictors of disease risk we have, yet it is broadly underutilized in clinical practice,” Orlando said.
Her project will gather family medical histories of low-income patients to assess inherited risks for cancer, cardiovascular disease and liver disease. Orlando’s goal is to increase access to and uptake of risk-informed, evidenced-based guidelines that will improve population health through better patient outcomes, higher quality of life and decreased costs.
To do this, she and her team plan to define and deploy a new care delivery model called Genomic medicine Risk Assessment Care for Everyone (GRACE) using the MeTree app as its risk assessment core. MeTree is a patient-facing web-based family and personal health history collection and clinical decision support tool that was developed by CAGPM.
“We know from our first study that there’s a high number of people with family health histories concerning enough that they warrant other types of screening or risk management,” Orlando said. In fact, over one-third of the population should have something beyond population health screening, but less than one percent are getting it.
Part of the reason for this is that it’s time consuming to collect family health histories, both for patients and primary care providers. Patients may provide incomplete or inaccurate information, and primary care providers may not know what to do with the information once they have it. GRACE would provide a tool to overcome these barriers for both patients and providers by combining a family health history-driven risk assessment, literacy-enhanced interface, family engagement and a genetic testing delivery system.
The rise of the phoenix
For the past six years, NHGRI has taken a leadership role in testing appropriate uses of genomic information in clinical care. This is their second iteration of the IGNITE program, which started in 2013. For IGNITE I, NHGRI selected six genomic medicine research sites for four years of funding. These research sites were tasked with finding ways to incorporate genomic information into electronic medical records and develop clinical decision support for providers across diverse healthcare settings.
IGNITE II will build off of two key findings from IGNITE I. Orlando’s team discovered during IGNITE I that people with lower literacy levels struggled to complete data entry because they didn’t always know the ways the body functioned. To overcome that, the team has created a low-literacy interface that allows users to verbally enter data. The interface then translates that language into text and, using natural language processing, takes the text and enters it into the database. This interface will also prompt users to input any necessary follow-up questions.
IGNITE I also employed a SMART-FHIR (Fast Healthcare Interoperability Resources) interface for electronic medical records but did not have enough time to test it. IGNITE II will provide the team with an opportunity to test the interface.
IGNITE II is just getting underway. PCTs will be finalized in spring 2019, and clinical groups will begin recruitment in August 2019.
The IGNITE Network has the potential to drastically change the face of healthcare. As results from the PCTS come in, clinicians all over the world may be able to see the clinical utility of genomic medicine for both risk assessment and disease treatment.