Part 2 | Improving Rare Disease Detection with Clinical Metabolomics
In this second part of our 3-part series on clinical metabolomics and its applications, we discuss how rare diseases, namely inherited metabolic disorders, can be screened using the technology.
While rare diseases, as the name suggests, have low incidence, they are difficult to diagnose and represent a significant unmet need for both patients and clinicians alike. With approximately 7,000 different types of rare diseases and 350 million people worldwide with conditions in this category, the struggle lies in both diagnosing the patient and providing appropriate treatments (if available) in a timely manner.[i] Up to 80 percent of rare diseases are genetic, and related symptoms can be challenging to pinpoint, further delaying diagnosis.[ii]
Within the realm of rare disease are conditions considered to be inherited metabolic disorders (IMDs), which encompass about 500 rare genetic diseases that result in metabolism problems. While individually rare, they occur collectively in about 1 in 2,500 people. IMDs, also known as inborn errors of metabolism, are rare genetic disorders that often disrupt bodily processes such as the conversion of nutrients into energy and structural molecules, the breakdown and clearance of waste, or the synthesis and function of regulatory signals. The disorders are usually caused by defects in specific proteins (enzymes) that help facilitate these processes.
IMDs usually present in the neonatal period or infancy, but can occur at any time, even in adulthood. While some metabolic disorders are detected by routine newborn screening tests, others are identified only after a child or adult shows symptoms of a disorder.
Below are some examples of IMDs:
· Propionic acidemia (the body is unable to process certain parts of proteins and lipids (fats) properly, resulting in build-up of abnormal levels of toxic substances in the blood and tissues)
· Cobalamin deficiencies (a variety of disorders involving vitamin B12 deficiency)
· Citrullinemia (disorder causes ammonia and other toxic substances to accumulate in the blood)
· Medium-chain acyl-CoA dehydrogenase deficiency (disorder that prevents the body from converting certain fats to energy, particularly during periods without food [fasting])
It is critical that IMDs are diagnosed and treated quickly, as they are known to cause brain and other organ damage, developmental delay and even death.
An Available Resource
Due to the complexities associated with rare diseases, it is important for patients to feel supported. Genetic counselors specialize in providing personalized help around a patient’s genetic health and can serve as a great resource. These skilled counselors work as part of a healthcare team to guide and support patients seeking information about how inherited diseases and conditions might affect them or their families and interpret test results.
We’d like to note that the first annual Genetic Counselor Awareness Day is taking place today, November 9th. It’s a day dedicated to recognizing the vital role these professionals play in patient care.
A Potential Solution
A relatively new, sophisticated technology called metabolomics can detect abnormal levels of metabolites associated with IMDs, thereby shortening the time to final diagnosis, potentially helping improve outcomes and saving thousands of dollars in healthcare costs. Current diagnostic procedures are based on a series of segmented genetic and biochemical tests that can take months to yield a diagnosis and corresponding treatment plan.
To address the ongoing need and solution for IMD diagnosis, Metabolon offers Meta IMD™, a test that identifies hundreds of metabolites associated with a wide range of IMDs.[iii] Meta IMD is an adjunctive, first-line clinical test that can save time to diagnosis by simultaneously surveying individual metabolites and pathways across amino acids, carbohydrates, organic acids, fatty acids, neurotransmitters, nucleotides and bile acids to detect biochemical abnormalities linked to IMDs.
Requiring just one small biological sample, Meta IMD screens for nearly 70 disorders and provides the results within 21 days. While Meta IMD is not meant to replace diagnostic testing for specific conditions, it is designed as part of the triage workflow to assist clinicians in deciding which confirmatory tests should be ordered.
Meta IMD represents a significant step toward understanding the science of IMDs and diagnosing them. Metabolon is committed to expanding clinical metabolomics testing that can help inform diagnosis and may improve patient outcomes across rare and undiagnosed diseases.
To learn more about this innovative screening tool for IMDs or to order a test, click here.
[i] Global Genes. RARE Diseases: Facts and Statistics. Available at https://globalgenes.org/rare-diseases-facts-statistics/. Accessed 08-27-2017.
[iii] Metabolon. “Metabolon Launches Meta IMD™ Test to Speed Diagnosis of Inherited Metabolic Disorders.” Published 09-28-2016. Available at https://www.metabolon.com/who-we-are/news-events/news/metabolon-launches-meta-imdtm-test-speed-diagnosis-inherited-metabolic-disorders. Accessed 11-1-2017.