Reaching nearly 4 million infants each year, newborn screening
is one of the largest disease prevention programs in the United
States, yet not enough infants have access to the process.
Early detection of disorders via newborn screening is critical
to infant health because it facilitates timely diagnosis and
subsequent treatment, which prevents catastrophic health
outcomes.
The American Academy of Pediatrics defines newborn screening as
“the early detection of conditions for which early and timely
interventions can lead to the elimination or reduction of
associated mortality, morbidity and disabilities.”
Infants across the United States do not have equal access to
screening services due to the wide disparity in the number of
disorders included in state-mandated programs.
California’s current newborn screening program requires
that infants are tested for only four groups of disorders.
These include sickle cell anemia and other hemoglobin diseases;
galactosemia, a metabolic disorder; phenylketonuria, a genetic
disorder; and congenital hypothyroidism, a disease associated with
insufficient production of thyroid hormones.
Yet 42 states screen for more diseases than California, and 26
others have already implemented new technology (i.e., tandem mass
spectrometry), which significantly increases the number of
disorders detectable at one time, using blood obtained from a
single heel prick.
Currently in California, screening for these additional
disorders is viewed as supplemental testing and must be covered by
out-of-pocket payments directly to private laboratories. Therefore,
infants among low-income families are likely to face barriers in
receiving these services.
In an effort to increase the number of disorders included in its
current screening program, California passed legislation by Sen.
Sheila Kuehl (D-Los Angeles) in 2000, which mandated the Department
of Health Services’ Genetic Disease Branch to conduct the
Tandem Mass Spectrometry Pilot Project.
During the project, approximately 354,000 infants were screened
for more than 30 additional disorders detectable by the pilot
project to determine if these conditions are clinically significant
and responsive to treatment.
When the 18-month pilot project ended in June 2003, funds were
not allocated to include these disorders in the current newborn
screening program.
On March 11, 2004, the March of Dimes and the Centers for
Disease Control and Prevention held a summit at the State Capitol
to update legislators on the project results and newborn screening
programs across the United States.
In August 2004, Gov. Schwarzenegger signed this legislation into
law, which expanded current newborn screening programs by including
testing for additional disorder categories detectable by the pilot
project such as amino acids, fatty acid oxidation, organic acid and
congenital hyperplasia.
Medi-Cal and health plans including most private insurance
providers will cover the expanded newborn screening once it is
incorporated into the current program.
The expanded newborn screening program is expected to take
effect August 1, 2005.
If left untreated, serious disorders affecting newborns can lead
to disability, brain damage and death. California births represent
one in eight of all births in the United States.
Therefore, expansion of its screening program will greatly
enhance efforts to prevent such adverse health outcomes among
newborns.
Preventing the development of advanced stages of diseases
reduces health care expenditures necessary for treatment of such
conditions.
To ensure that all babies receive equal access to newborn
screening regardless of the state they are born in, join the
national movement led by parents, community agencies, health
professionals and federal advisory committees, aimed at promoting
standardization of state-specific programs via adoption of uniform
policies.
La Shawnta Bell-Lewis is a Doctoral Student in the School of
Public Health, Department of Health Services.