By John Aballi, president and CEO, Exagen
From cancer to autoimmune disease to infectious conditions, when people first experience unexplained symptoms, the priority of those affected is to seek timely and telling answers to the cause of those symptoms. It is the responsibility of many in the healthcare industry chain of command to provide effective tools to convey condition information to patients and physicians that can drive treatment options and improve health outcomes. Providing this insight means relying on data as the driving force.
Notable diagnostic advancements in data science and the scientific community’s ability to use analytic tools play an essential role in global health. They can both reduce the prevalence of chronic disease and be a driving factor in controlling infectious disease outbreaks. Extracting transformative real-world data (RWD) and applying real-world evidence (RWE) have enabled smarter healthcare decisions and altered the diagnostics landscape, allowing clinicians and physicians to derive meaningful knowledge from the outputs.
The Use of RWD/RWE Is Supported by the 21st Century Cures Act
According to the FDA, real-world data is data relating to a “patient’s health status and/or the delivery of healthcare routinely collected from a variety of sources.” This data might be derived from claims and billing activities, electronic health records (EHRs), product and disease registries, and patient-generated data collected home-use settings. Going hand in hand, the FDA defines real-world evidence as “clinical evidence regarding the usage and potential benefits or risks of a medical product derived from analysis of real-world data.” This evidence is generated through study design and analysis via various trials and observational studies.
The 21st Century Cures Act was one of the most recent pivotal legislative acts to affect the potential for using real-world evidence to evolve disease diagnosis and treatment. It authorized $6.3 billion in funding for the National Institutes of Health with the expressed goal of “accelerating the discovery, development and delivery of 21st century cures.” Pharma manufacturers lauded the law’s enablement of data-driven decisions and a provision that required the FDA to expand the role of RWE in its drug approval process.
Importantly, the Act shifted the criteria for drug approval, allowing in some instances the submission of RWD as evidence in drug approval instead of requiring additional randomized clinical trials. For instance, in certain scenarios, if a drug manufacturer has an approved and successful commercial therapeutic and seeks a different delivery mechanism or treatment for a new condition, RWE can be submitted to shorten the approval process. While clinical trials are still critical, the Cures Act directives provide flexibility in the overall approval process by allowing RWE to support trials, benefitting both manufacturers and patients with shorter timelines and potential cost savings.
The Autoimmune Example: Faster Diagnoses
Autoimmune diseases are one area to benefit from RWD and RWE. Conditions such as rheumatoid arthritis, systemic lupus erythematosus (SLE), and others are some of the most difficult to diagnose as no single, definitive test can identify them. People affected by these diseases can have a range of overlapping symptoms such as joint pain and swelling, fatigue, digestive issues, and skin issues. Rheumatologists rely on various indicators, including the patient’s presentation, medical history, and lab test findings to make a diagnosis. However, complicating diagnoses are those with one autoimmune condition are more likely to develop additional ones,1 and other non-autoimmune conditions such as osteoarthritis may present similarly. Relying more heavily on data for beneficial outcomes can be a game changer.
RWD/RWE In Practice
A useful aspect of data in practical settings, using the autoimmune example, is that as the effects of using RWD and more accurate tests derived from RWE filter down to physicians, they better understand the most prudent clinical action. A heavier reliance on RWE tools to complement formal trials can be advantageous in certain scenarios and can condense diagnosis and treatment timelines compared to conventional protocols, which have associated charges to identify patients, enroll them, and conduct testing.
As an example, a recent research study known as CAPSTONE, the largest ever comparative utility study in lupus diagnostics, incorporated RWE/RWD. The study leveraged a database of EHRs from over 300 rheumatology providers in the U.S. to compare the clinical utility of an innovative diagnostic test for lupus to a conventional autoantibody (tANA) testing approach. The authors demonstrated the impact of a new approach on lupus diagnosis in real-world testing of tens of thousands of patients with a focus on the test’s impact on diagnostic and treatment decisions. Additionally, EHRs were linked to corresponding insurance claims to evaluate the economic impact of new diagnostic tests on the cost of care, allowing the authors to make a compelling case for the cost-effectiveness of the test in a study population that would take years to enroll through a conventional trial design. Ultimately, the study results demonstrated, both for those who tested positive and negative, that it is more effective than traditional tANA testing at getting the diagnoses sooner and ending the patients’ diagnostic odysseys, presenting a proven alternative for physicians.
Future Data, Future Real-World Results
As the access to copious amounts of health-related data and technological advancements influences the future of the healthcare industry, those leading the charge can, using sophisticated analytical tools, apply the data learnings in diverse areas:
- improve design for clinical trials;
- streamline medical product and therapeutic development and approval;
- develop guidelines for coverage guidelines; and
- define clinical practice tools.
Collecting and applying data through modern tools, algorithms, and techniques to discover unseen patterns and derive meaningful knowledge allows scientists, clinicians, and physicians a greater level of clarity in diagnosing and treating diseases. While there will always be a role for conventional protocols, the healthcare industry will be further empowered by RWD and applying RWE to transform patient outcomes.
About The Author:
John Aballi has served as Exagen president and CEO since October 2022. He most recently was SVP, GM, urology, and CLIA COO for Veracyte, a San Francisco-based molecular diagnostic company. Prior to this role, he was a member of the leadership team for Decipher Biosciences, which is a company working in genomic testing for prostate cancer. Other previous roles include the head of operations at Molecular Stethoscope, a company developing cell-free RNA based diagnostics. Aballi holds an MBA from California Baptist University and dual degrees from UC San Diego in biochemistry and cell biology and economics.