Bringing Precision Diagnostics Home

Patients living with autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus (SLE), or multiple sclerosis must see their health practitioners frequently to check the progression of their conditions and their responses to therapies. Monitoring disease activity and severity is crucial so that physicians can help patients get to or stay in remission before long-term damage is done. And since these chronic diseases require a lifetime of care, the testing and doctor visits add up over time. This can be inconvenient and costly.

But one company may be changing that dynamic. DxTerity is developing a low-cost autoimmune profile (AIP) test that patients can perform by themselves at home. The test provides high-precision, gene-expression analysis of 12 immune-related disease pathways, including type 1 interferon levels. The test involves the patient providing a self-collected blood sample with the company’s DxCollect: fingerstick collection kit, which stabilizes the sample at ambient temperature so it can be mailed to the company’s laboratory for testing.

What makes this technology unique, Jim Healy, senior vice president of business development and CFO said，is that it uses RNA or gene-expression, rather than DNA, analysis. RNA is inherently unstable and therefore more difficult and expensive to stabilize in a sample in a test. But RNA is important, Healy said, because it gives insight into immune-response mechanisms, instead of just confirmation that disease is present. “RNA looks at disease progression and severity,” he explained. “So, you’re getting a more dynamic measure of your disease condition.”

DxTerity has developed two innovations that make RNA testing more cost effective. One is a sample-preservation technology that enables RNA to be stabilized in blood during ambient transport. The other is an RNA-testing technology that allows high-throughput, low-cost RNA testing with only a small fingerstick sample.

The AIP test has several use models for patients, said Healy. “Initially we would envision it being administered in a doctor’s office, without the use of a phlebotomist,” he said. “We ultimately visualize a monitoring application for chronic autoimmune disease from home to gather insights regarding changes in disease activity or changes in therapy effectiveness.”

“We call it genomics in everyday care,” he added. The company is targeting its first test for SLE patients, and it will offer four utilities. “They are diagnostic, prognostic (are you likely to respond to a given therapy), theranostic (are you responding to your therapy), and disease activity (can we tell if your disease is under control or is it recurring),” he said.

DxTerity is an ISO 13485 certified diagnostic manufacturer, and the company intends to kit these products and make them available globally. “We believe in working with integrated health providers because we see remote management of patients as providing huge cost savings. To be biologically able to measure disease progression from home plays into the telehealth and remote management paradigms, but ultimately, it’s about making it more convenient for the patient,” he said.

DxTerity anticipates a filing in the third quarter of 2019 for its SLE model with FDA.