Reprinted from the New England Connection Update, March 1999, a newsletter of the New England Connection for PKU and Allied Disorders. This article provides a brief history of newborn screening and explains the importance of tandem mass spectrometry.

New England has traditionally been the center of action in newborn screening. In fact, newborn screening really began in New England. Dr. Robert Guthrie (Buffalo, New York) had developed a newborn screening test for PKU, and he knew that it could prevent mental retardation in thousands of children with PKU. However, the medical and public health establishment in New York at the time opposed making the test routine for all newborn infants.

Fortunately at a meeting in 1962, Dr. Guthrie met Dr. Robert MacCready, Director of the Diagnostic Division of the Massachusetts Public Health Laboratories. Dr. MacCready learned about the screening test from Dr. Guthrie, was convinced that it would indeed prevent mental retardation in PKU, brought the test to Massachusetts, and asked doctors throughout the state to obtain heel stick blood specimens from newborn babies. This became the first newborn screening program in the world. In 1963 Massachusetts became the first state to pass a law requiring a PKU test in all newborn infants. Other New England states soon followed Massachusetts, and this was followed by still other states throughout the country.

When Dr. Guthrie developed other tests for disorders such as HCU, MSUD and galactosemia, he looked to Massachusetts and other New England states to add these to newborn screening. When I became involved in the Massachusetts newborn screening program, New England had already become world famous as the center of newborn screening activity. This fame continued until a few years ago when other programs began to use new methods that expanded the number of disorders that could be identified and made the screening much more efficient.

By far the most important of these methods is tandem mass spectrometry, often abbreviated MS-MS. This method was pioneered by Dr. Don Chace when he was at Duke University and applied to routine newborn screening by Dr. Edwin Naylor in Pittsburgh. Dr. Naylor has now formed a private newborn screening laboratory known as Neo Gen Screening, Inc., where he and Dr. Chace are now screening almost 200,000 babies a year by this method. They have shown they can identify many infants with important disorders in addition to PKU and prevent disability or even death in these infants by beginning early treatment made possible because of newborn screening.

Getting MS-MS adopted in New England, however, proved to be a formidable task. By this time the individual New England states had decided to have a regional newborn screening program with the screening performed in only one laboratory, the one in Massachusetts. All New England states except Connecticut are part of this program; Connecticut preferring to retain its own testing laboratory. Thus, advocacy for adding MS-MS to newborn screening had to center on Massachusetts. The metabolic doctors in Massachusetts, including Dr. Mary Ampola, Dr. Mark Korson, Dr. Vivian Shih and myself, vigorously fought to have MS-MS adopted here.

The matter was hotly debated within the Newborn Screening Advisory Committee of the Massachusetts Department of Public Health. Fortunately with allies such as Dr. Philip Reilly, Director of the Eunice Kennedy Schriver Center, and with the very strong support of the Connection led by Trish Mullaley, we were able to get the Public Health Department to pass new regulations that established MS-MS screening on a 2-year pilot basis. This screening program began in Massachusetts on February 1, 1999. We are confident that this expanded screening will continue once its many advantages are realized. We are also confident that the other New England states will soon add MS-MS. If so, New England will once again become a world leader in newborn screening.

I cannot emphasize enough how important parents and parent organizations are in this process. As I have mentioned, the Connection has been critical in helping the Massachusetts laboratory turn in the right direction. Now needed is an effort to make newborn screening consistent throughout the U.S., so no longer will identifying a disorder in a baby depend on which state the baby is born in. The federal government is finally beginning to take a role in this matter, but constant vigilance both within individual states and at the federal level will be required to assure appropriate final results.


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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