Rapid Molecular Test Diagnoses Multiple Sclerosis

A pioneering blood test has been introduced that speeds up multiple sclerosis (MS) diagnosis to just seven days. Current testing methods such as magnetic resonance imaging scans take much longer to reach a diagnosis because they rely on measuring the progress of irreversible neurological damage.

Neurologists, especially those who specialize in MS, have a long backlog of new patients to be seen. It's not uncommon for patients to wait a couple of months before they can be seen in a clinic to either confirm or exclude the diagnosis of MS. That is a long time between a primary care physician or someone in the community is suspecting it is MS, and it is either confirmed or refuted by the clinician.

Molecular diagnostics startup IQuity (Nashville, TN, USA) have introduced IsolateMS, which works by assessing patients’ RNA levels and gene expression in a blood sample. Previous IQuity’s research showed that autoimmune disease patients exhibit distinct long non-coding RNA (lncRNA) expression patterns in their blood that are different from individuals without the disease, suggesting that these RNA markers could be a way to diagnose autoimmune conditions.

The scientists used machine-learning to create a disease-identifying algorithm by recognizing differentially expressed protein-coding genes and noncoding genes. IQuity’s suite of algorithms, IQIsolate, works by helping scientists analyze RNA markers extracted from a patient’s blood sample and matching their RNA profiles against healthy and sick patient profiles. This determines if the patient’s gene expression pattern is consistent with a specific disease.

Chase Spurlock, PhD, CEO of IQuity, said, “The 90% accuracy rate of IsolateMS should give providers and patients a great deal of confidence in their results. This test augments existing clinical practice and eliminates the period of uncertainty that can accompany an MS diagnosis. IsolateMS allows patients and providers to begin discussing next steps immediately.”

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