Massachusetts initiated the first state-mandated newborn screening program, but newborn screening really began in New York State when Robert Guthrie, M.D., Ph.D., from Buffalo, NY, conceived of the idea of using filter paper to collect drops of blood from a baby's heel. This dried blood specimen, or Guthrie spot, now is used throughout the world for newborn screening. Although he was encouraged to obtain a patent on his invention, Dr. Guthrie refused and made it widely available for use by all programs in the world.
Dr. Guthrie also devised the bacterial inhibition assay for phenylketonuria (PKU) that was used by all programs in the first decades of newborn screening. In fact, New York used the Guthrie test until its adoption of tandem mass spectrometry technology in 2002.
Legislative mandate for newborn screening in New York was passed in 1964, as Public Health Law 2500a. It provided that all newborns be tested for PKU, according to guidelines provided by the Commissioner of Health. Since initiating testing in 1965, New York's program has tested nearly 11 million newborns for PKU, and identified 280 with the condition, each being referred for specialized medical care.
Since the initiation of testing for PKU in 1965, PHL2500a has been amended several times to expand the program. First, in 1968, maple syrup urine disease (MSUD), homocystinuria and galactosemia, were added to the screening panel; again, in 1975, sickle cell disease (SS); and later, in 1978, congenital hypothyroidism.
Commissioner David Axelrod was the first to use the powers of that office to add biotinidase deficiency in 1981. Testing for HIV began in 1991. This was part of a nationwide effort supported by the CDC to gauge the extent of the HIV epidemic. All identifiers were stripped from the specimen, a few demographic elements were returned that allowed geographical location and mother's age, and then recoded and detached. Unlike all other states, New York chose to test all specimens, rather than a statistical sample, and continued testing all newborns. This "blinding" of test results was controversial from the start, but provided valuable information for the Department's AIDS Institute so that resources could be properly applied. Controversy on the "blinded" testing continued until 1997, when the testing program was moved to the same protocols as the other conditions, with two exceptions: Results are reported only to the HIV specialist at the birth hospital and there is no follow-up by the NBS program.
The screening panel has now grown to include 31 conditions. More than 11,000 infants affected with one of these conditions have been identified by the screening program, now operating out of the Biggs Laboratory, while having begun as four regional laboratories located in Buffalo, Syracuse, Albany, and New York City. The screening panel will expand to 44 conditions in 2005.
With encouragement and support from Governor Pataki, the program is developing a test for Krabbe disease, which is planned for implementation by year's end. Other research efforts focus on increasing the specificity of the analytical procedures to reduce the number of false positive reports, validation of the designation "unsuitable for testing" that causes rejection of thousands of specimens each year, and enhanced use of the tandem mass spectrometry technology, in particular as a second level test following the initial immunoassay. Looking far into the future, experiments have begun that could lead to relocation of the testing laboratory into the nursery through use of nanotechnology, with the important advantages that therapy could begin immediately for affected infants and invalid specimens could be eliminated.
Other changes in the program include multi-language versions of the information brochure given to parents; redesign of the specimen form to meet new guidelines from the U.S. Postal Service; installation of a web page with extensive information for parents and clinicians, including annual reports since 1992; and, capabilities that allow providers to order materials needed for their NBS functions.
In the 40 years since its beginning, New York's newborn screening program has been a leader in this important public health program. The state was the first to:
New York also was the only newborn screening program in the world to initiate population-wide blinded seroprevalence testing of its newborns for HIV infection, and remains the only program in the world to test and report HIV results on its newborns.
In 1981, the state was the first to begin reporting of all test results, not just positive results, by involving the new mother in the process through giving her an identification number for her child's specimen and suggesting she ask her doctor for the results. This concept and procedure are now used by most US programs.
Accompanying this increased maternal involvement was the expansion of follow-up services for newborns identified by the screening laboratory. Working with staff in the Department's Division of Family Health, specialty care centers for endocrine, hematological, and metabolic disorders have been identified and certified, thus providing expert care for infants identified by the screening program.
Staff of the New York program have been active in national and international newborn screening activities, providing leadership in development of guidelines for operation of newborn screening programs, followup and diagnosis of infants after identification by the testing laboratory, storage and use of the residual specimens when testing is finished, and most recently in developing national standards for adoption of a screening panel.