STUDY OF EXPANDED NEWBORN SCREENING
The New England Consortium of Metabolic Programs

The technology of tandem mass spectrometry (MS/MS), recently adapted to
the dried blood specimen collected for newborn screening (Chase, 1993),
allows for the detection of many biochemical genetic disorders
heretofore not testable in the newborn specimen. In 1999, Massachusetts
instituted a pilot program using MS/MS, adding 20 metabolic disorders to
the traditional screening panel. Maine allows the technology for the
diagnosis of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
only. The other New England states are considering expanding their
screening mandate.  With technology as the driving force, there is the
possibility of expanding screening for an even larger number of genetic
disorders.  It is important to study the ethical, social and legal
implications of these programs now when they are new and still amenable
to change.

The New England Consortium of Metabolic Programs, a regional
organization of health care professionals at all levels involved in
identifying and treating  biochemical genetic disorders, is examining
the impact of expanded newborn screening through MS/MS.  The research is
in collaboration with NeoGen Screening, Inc. that conducts expanded
newborn screening in selective hospitals in Pennsylvania.  Four
naturally occurring study groups exist: children identified through
MS/MS; children diagnosed clinically; children for whom the initial
screening diagnosis was false positive; and a control group of children
for whom the newborn screen was normal. Parent interviews take place 6
months after the diagnosis is made and then again a year later and, for
the children with metabolic disorders, medical examinations and
developmental testing are performed. Parents report on their experiences
at the time of diagnosis in terms of how they responded to the
information received, their subsequent interactions with health care
systems, and their familyıs adjustment.

Enrollment to date includes 16 patients identified by MS/MS, 5 siblings
of screened patients, 12 patients identified clinically, 4 false
positives and 22 controls for whom the newborn screen was normal. This
study assesses not only the health outcome of children, but also the
impact of the diagnostic process in terms of parental stress and
experiences with the health care system.  Potentially, it will identify
the communication and service delivery components necessary for
successful implementation of expanded newborn screening programs.