Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease that causes the body’s immune system to attack its own healthy tissues. There is currently no cure for the disease and its treatment and management require a lifetime of care.
There are over 350,000 individuals currently projected to be living in the U.S. with lupus, and effective patient management is difficult. Clinicians rely on patient-reported symptoms, clinical presentation, and antibody-based lab testing to gain an understanding of a patient’s current state of disease, but these provide limited information on the best course of treatment, disease activity, or disease prognosis. New diagnostic tools are needed to improve SLE diagnosis and disease characterization.
Soon, low-cost gene expression monitoring will be conducted at home, enabling the stratification of patient sub-populations based on immune pathway activation for disease activity and severity over time. To that end, DxTerity, a patient-centric genomics company, launched The LIFT Study (Lupus Interval Monitoring to Manager Disease Flare and Enable Treatment Optimization), and enrolled more than 1,400 lupus patients using social media-based recruiting to participate in at-home sample collection, DxCollect®.
The LIFT study demonstrated the potential for a from-home blood test that measures type I interferon (IFN) gene expression levels associated with key immune response pathways. The activity of these pathways can be measured by modules, which are groups of genes that behave similarly within a pathway. The Autoimmune Profiler (AIP) provides a low cost, high throughput analysis of 11 different modules to help the clinicians by personalizing lupus care and treatment based on the genetics of an individual’s disease.
The results thus far are promising. Utilizing the IFN module with the AIP test, there was a 97% success rate for assessing type I IFN high/low status based upon gene expression testing of the participant-collected blood sample. The analysis of 1,249 samples spanning a large range of disease activity and severity levels demonstrated about 36% expressed high-IFN. Additionally, the IFN gene expression levels from the LIFT study cohort reflected similar findings to a previous study that sought to predict patient subpopulations with disease severity (Bello et. al., 2016).
In the studies above, two sub-populations were shown to be more severe: African Americans and patients with disease diagnosis at less than 18 years of age. In LIFT, these subpopulations, in addition to correlating with higher disease severity, demonstrated higher IFN expression levels as well. IFN expression was 68% in African Americans compared to 29% in Caucasians. Also, in patients with disease diagnosis at less than 18 years of age, levels were 63% compared to 33% (disease diagnosis between the ages 18-50) and 23% (patients diagnosed at over age 50).
A from-home RNA-based blood test, combined with genomic immune profiling, may soon assist clinicians in identifying individuals likely to have more severe forms of lupus, and help them better understand a patient’s clinical progression and potential response to emerging therapies or treatments.
 CDC, “Lupus Detailed Fact Sheet: SLE Prevalence and Incidence,” https://www.cdc.gov/lupus/facts/detailed.html: accessed 2018-4-18
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