Metascreen is an advanced non-invasive metabolic screening test distributed by

Cordlife Incorporated in May 2001, Cordlife Group Limited ("Cordlife", together with its subsidiaries, the "Group"), is a consumer health company and one of the leading providers of cord blood and cord lining banking services in Asia. Cordlife has been lis ...

Group Limited ("Cordlife"). It can detect as many as 110

inborn errors of metabolism Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances ( substra ...

("IEMs", or metabolic disorders) from a urine specimen. Cordlife owns the brand name and trademark, "Metascreen".

History

Metascreen, as a newborn metabolic screening test, was first launched by Cordlife in India in October 2013. Since April 2014, Metascreen became available also in Hong Kong and the Philippines through Cordlife for parents looking for more comprehensive screening of metabolic disorders for their children. As a newborn suffering from certain metabolic disorder, such as isovaleric acidemia, may appear asymptomatic in the first few days or even weeks of life, early detection and treatment is key in preventing irreversible lifelong complications, such as physical disability or mental retardation.

Technology

Unlike the conventional dried blood spot test for

newborn screening Newborn screening (NBS) is a public health program of screening in infants shortly after birth for conditions that are treatable, but not clinically evident in the newborn period. The goal is to identify infants at risk for these conditions earl ...

that involves a painful heel prick, Metascreen uses urine specimen, collected without harm or discomfort to the newborn, to detect as many as 110 metabolic disorders. The urine specimen is collected on a filter paper, which is then air-dried and sent to the laboratory for analysis using a

gas chromatography-mass spectrometry Gas is one of the four fundamental states of matter (the others being solid, liquid, and plasma). A pure gas may be made up of individual atoms (e.g. a noble gas like neon), elemental molecules made from one type of atom (e.g. oxygen), or com ...

instrument ("GC-MS"). GC-MS is a

FDA The United States Food and Drug Administration (FDA or US FDA) is a federal agency of the Department of Health and Human Services. The FDA is responsible for protecting and promoting public health through the control and supervision of food s ...

approved method for urinary

analyte An analyte, component (in clinical chemistry), or chemical species is a substance or chemical constituent that is of interest in an analytical procedure. The purest substances are referred to as analytes, such as 24 karat gold, NaCl, water, etc. ...

detection, a gold standard for

lipid Lipids are a broad group of naturally-occurring molecules which includes fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E and K), monoglycerides, diglycerides, phospholipids, and others. The functions of lipids include ...

s, drug

metabolite In biochemistry, a metabolite is an intermediate or end product of metabolism. The term is usually used for small molecules. Metabolites have various functions, including fuel, structure, signaling, stimulatory and inhibitory effects on enzymes, c ...

s and environmental analysis. Many of the IEMs that are classified as "organic acidemia", in which organic acids accumulate in the urine of newborns with these disorders, are easily and accurately picked up by GC-MS.. The GC-MS platform is recommended by the American College of Medical Genetics for the detection of organic and amino acidemias through the urine. Furthermore, the platform has also been shown to be reliable in detecting other types of IEMs, such as sugar metabolism disorders and fatty acid oxidation disorders. Indeed, GC-MS analysis is increasingly becoming a common way to diagnose IEMs for earlier intervention and treatment, resulting in a better outcome and quality of life.

Use of urine as a diagnostic biofluid

As a major organ for excretion, the kidney removes waste materials and chemicals from the body, such as increased concentrations of intermediary metabolites of a particular pathway, making urine (the waste product from the kidney) particularly useful for medical diagnostics. The key advantages of using urine as a biofluid are: (1) its sterility; (2) accessibility and non-invasive method of collection; and (3) it being largely free from interfering proteins or lipids. Although the human urine metabolome is a subset of the human serum metabolome, more than 484 compounds identified in urine by Bouatra et al. (either experimentally or via literature review) were not previously reported to be in blood. The same group hypothesised that this is because the kidneys do an extraordinary job of removing and/or concentrating certain metabolites from the blood, hence, compounds far below the limit of detection in blood (using today’s instrumentation) are well above the detection limit in urine. This difference, combined with the ability of the kidneys to handle abnormally high or abnormally low concentrations of metabolites, makes urine a particularly useful biofluid for medical diagnostics. In fact, urinary metabolites have been used to characterize nearly 220 diseases.

Controversies

Cordlife announced in October 2013 that Cordlife India has introduced Metascreen service through a strategic collaboration with Navigene Genetic Science, a genetic diagnostic and research company. In 2014, Navigene was embroiled in a controversy where its founders were accused of data and scientific research theft and fined for INR 3 Million by the Adjudicating Authority of the Department of Information Technology, Government of India. Navigene rejected all allegations{{Cite web, url=http://www.dnaindia.com/mumbai/report-firm-slapped-rs-30-lakh-fine-for-data-theft-1956820, title = Firm slapped Rs 30 lakh fine for data theft, date = 25 January 2014 and has filed a writ petition (No. WP/3291/2014) with the High Court of Mumbai to challenge and squash the order.

References

Neonatology Inborn errors of metabolism Epidemiology Rare diseases