Hastings Center Pep.: Expanding Newborn Screening: Process, Policy, and Priorities.

• Author: Moyer, Virginia A.
• Position: Reprint

A newborn screening program is not just a panel of screening tests. Ideally, it is also parental education, follow-up, diagnosis, treatment and management, and program evaluation, and all of the various parts of the system must be in place and working well to realize the benefits of screening.

Nonetheless, the screening itself is what gets the most attention, and the technology available for the test has been a critical factor driving the growth of newborn screening. The invention of the original PKU test and the card used to store and transport the blood sample to the laboratory made public newborn screening programs possible. What has enabled the sudden expansion of newborn screening is the availability of a new technology for conducting the tests. In the past, adding a new condition to a program meant adding new laboratory equipment to an already complex system. Now, however, most of the new conditions recommended by the American College of Medical Genetics (ADMG) group are detected using a single method--tandem mass spectrometry (also known as MS/MS), which produces results with a high degree of precision and accuracy and permits multiplex testing, in which a single blood analysis screens for many conditions at once. Tandem mass spectrometry can replace tests formerly used to screen for PKU while simultaneously screening for many other metabolic abnormalities, some clinically...