Metabolomics Drives Identification of Rare Disease Signatures and Diagnoses
Rare diseases represent a unique challenge in clinical medicine. These diseases signify that few people have these diseases and even fewer have a successful diagnosis. Rare diseases are classified in many categories, including metabolic diseases, rare cancers, autoimmune diseases, blood disorders, digestive diseases, endocrine system disorders, nervous system diseases, reproductive disorders, and musculoskeletal diseases.
Traditional diagnostics rely on multiple different targeted panels and numerous sample types to perform a comprehensive assessment for a patient and make a conclusive diagnosis across the broad array of rare diseases. Having more comprehensive clinical tests to interrogate patient samples can be the key to identifying biomarker signatures that can lead clinicians to determine the correct diagnosis and prescribe treatment.
Metabolon’s laboratory is validated by Clinical Laboratory Improvement Amendments/College of American Pathologists (CLIA/CAP) to perform laboratory testing on specimens from humans for the purpose of diagnosis, prevention, or treatment of disease for the assessment of health.
Our CLIA/CAP validated untargeted metabolomics platform can identify up to 1,000 biochemicals in plasma, urine and cerebrospinal fluid (CSF). These biochemicals are small molecules such as carbohydrates like glucose and other small molecules like amino acids and lipids, and our previous studies have shown that these small molecules change before phenotypic changes in an individual. Therefore, these molecular changes are clinically significant as they provide the earliest indicators of disease progression and response to treatment. There are an estimated 7,000 rare diseases and several hundred of them are classified as metabolic diseases. Additionally, several hundred more are classified in other categories (e.g., cancers, autoimmune diseases, endocrine diseases, etc.) have small molecule signatures. Biochemical signatures identified through metabolomics provide indicators and a clear path to clinical diagnosis with one test, whereas traditional diagnostic methods require multiple tests that may still not offer answers.
In a recent study published in the Journal of the American Medical Association, Metabolon’s platform was leveraged to screen over 2,400 samples from patients suspected of having a metabolic disease. The platform correctly identified biomarkers signatures in 128 cases and 70 different metabolic conditions. Forty-nine of these diseases are not tested for newborn screening in the United States through the Recommended Uniform Screening Panel. Several of the diseases represented are classified as neurometabolic disorders that traditionally use CSF as the diagnostic sample type. Metabolon’s technology identified biomarker signatures for these diseases in plasma also making it a less invasive approach for patients. The diagnostic rate of the platform was a several fold increase over traditional diagnostics.
By providing a comprehensive assessment of the metabolome for these patients, Metabolon’s technology provided in-depth coverage of multiple pathways that can be altered in patients with a metabolic disease. Rather than targeting these pathways and enzymes with single tests and collecting multiple samples, our analysis provided an efficient means to provide clinicians with critical information to make quicker diagnoses in these patients.
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