“The New Way to Screen”

In opinion article titled, “The New Way to Screen” by Piero Rinaldo, M.D., Ph.D., appeared on TheScientist.com on Aug. 22. The opinion piece discusses how newborn screening is moving away from strict cutoff values to diagnose metabolic disorders, reducing the risks of false positives and negatives. The advancement of newborn screening has been made possible by the critical activities of a worldwide collaborative effort of unprecedented size, the Region 4 Stork project, R4S, with participation of more than 150 laboratories in 50 countries.

Below is the opening paragraph of Dr. Rinaldo’s editorial:

When a baby is born, a few drops of blood are collected by heel prick and spotted on filter paper. The dried blood spots are submitted to public health laboratories for a series of screening tests, which include the analysis of amino acids and fatty acid esters called acylcarnitines by mass spectrometry for the detection of more than 40 inherited disorders. This test is quite complex as one specimen may translate into more than 100 markers and ratios. Such profiles are routinely interpreted by applying analyte-based cutoff values and sequential algorithms, visual pattern recognition for certain data subsets may be helpful but it is subjective and inconsistent. Overall, the current status quo is of concern because the false positive rate can be as high as 1-2 percent in some programs and false negative events are pervasively frequent.

Dr. Rinaldo is the interim chair of the Division of Laboratory Genetics and the co-director of the Biochemical Genetics Laboratory at Mayo Clinic in Rochester, Minn. He is a professor of laboratory medicine and the T. Denny Sanford professor of Pediatrics, Mayo Clinic College of Medicine.


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