Big Data and Big Markets for Newborn Screening: AACC 2014 Meeting in Chicago

FT. LAUDERDALE, Fla. - Aug. 22, 2014 - PRLog -- A single drop of blood can yield more than 100 markers and ratios to aid in the diagnosis of many inherited disorders. Implementation of newborn screening has positively affected the lives of many children. Forty metabolic diseases can now be detected at birth, and with appropriate treatments children can lead a better life. With recent advances based on worldwide data sets, results interpretation has improved significantly over the past few years.

At the AACC Meeting & Clinical Lab Expo, Piero Rinaldo, MD, PhD, shared some groundbreaking research. Piero Rinaldo is Professor of Pediatrics at the Mayo Clinic. He is board certified in Clinical Biochemical Genetics and a co-director of the Biochemical Genetics Laboratory. Dr. Rinaldo has published more than 170 peer-review articles. His current research interest is the implementation of multivariate pattern recognition software to the interpretation of complex profiles of clinical laboratory results, and applying the concepts of Big Data to newborn screening.

Dr. Rinaldo discussed the use of an online database created by an international group of screening laboratories.  The research group involves 200 labs in 60 countries that have more than 1.2 million data points on over 16,000 true-positive cases detected with newborn screening. This innovative approach includes post-analytical interpretive tools and multivariate pattern recognition software. The interpretative tools can focus on a single condition, or help differentiate between multiple conditions. The patient’s results are merged into a single score and reported as a percentile rank among all cases of the same condition.  Complex disease profiles in newborn screening require defined diseased ranges and a rigorous clinical validation process.

According to recent market research reports, the global newborn screening market is estimated to reach $819.6 million by 2019. The market forecast includes technology like mass spectrometry, immunoassay, enzyme assay, electrophoresis, instruments, accessories, reagents and assay kits. Among various technologies, the enzyme assays and immunoassays will command the largest share of the market, and mass spectrometry is forecasted to be the fastest-growing segment in this market.

Factors such as benefits offered by newborn screening programs, legislations and mandates, technological advancements, government support, and an expanding panel of newborn diseases are driving the growth of the market. In addition, continuous advancements in technology and new and innovative devices are being launched in the market, which is another key factor providing rapid growth.

Based on geography, North America is the biggest market for consumers and will account for the largest revenue of this global market. This large market share of the North American region can be attributed to the government support in terms of formation of legislation, grants and funding, need for reducing healthcare cost, and rising awareness by educated consumers.

Some of the prominent players developing innovative technologies in this market include AB SCIEX, Agilent Technologies, Bio-Rad Laboratories, Cetics Healthcare Technologies, Covidien, GE Life Sciences, Masimo Corporation, Natus Medical, PerkinElmer and Waters Corporation.