Newborn Screening Gets Upgraded
As the 1997-98 two-year session of the legislature came to a
close this year, we were pleased to see a piece of prevention legislation
(Senate Bill 537) get approved by the legislature and signed by the Governor.
After a year of being held in “suspense” by the Assembly Appropriations
committee, Senate Bill SB537 – Genetic Diseases: Expanded Newborn Screening
Program cleared committee in the final week of the session and was approved by
both houses of the legislature and forwarded for the Governor’s signature.
This measure had been authored by Senator Leroy Greene in order to upgrade and
expand the existing newborn screening program. The changes stipulate the use of
new technology called Tandem Mass Spectography and it is expected that
improvements in accuracy, repeatability, and cost will be achieved by applying
this new technique.
A bill to mandate a newborn screening program was originally authored many years
ago by then rookie Assemblyman Leroy Greene. Now Greene is a senior Senator and
has just completed serving his final term. The current screening program
conducts tests on all babies born in the state of California in order to
determine if they may have been born with a birth disorder. The current test
methods are considered to be quite good, but, during the last 30 or 40 years
test technology has been greatly improved.
Now that the Governor has signed the SB537 measure, the newborn screening
program will be upgraded and at least 16 additional disorders and conditions
could potentially be added to the program. These disorders all into five
categories: Cystic fibrosis; Biotinidase defect; Urea cycle defect; Organic acid
defect; and Fatty acid oxidation defects. All of the disorders and conditions
being considered for addition to the screening program are conditions which are
Cystic Fibrosis — Early detection of Cystic Fibrosis can prevent
hospitalization. With delayed detection, the disease often leads to prolonged
periods of hospitalization for the person involved. Currently, there is no known
cure for Cystic Fibrosis. The incidence is one case out of every 2,000 live
births — This means that there are about 300 new cases of Cystic Fibrosis
occurring in California every year.
Biotinidase Defects — All detected cases are treatable and curable.
Detection is key. Without screening, the infant usually has brain damage before
the disorder is discovered, and before treatment can be started. Screening of
newborns for the lack of Biotin (required for brain growth) can be very
meaningful. The incidence of this disorder is one case per 15,000 live births
— 40 new cases in California per year.
Urea Cycle Defects — There are three defects of the urea cycle that are
understood enough for consideration. Two are treatable, one is fatal. Detection
and treatment of these two treatable disorders can minimize progressive brain
Organic Acid Defects — These are serious metabolic disorders which can
be treated. These diseases are usually fatal without treatment.
Fatty Acid Oxidation Disorders — This type of disorder is treatable,
life-saving, and curable. It is an inherited disorder. After the initial
diagnosis is made within a family, one can anticipate a recurrence risk of 25%.
Once again, newborn testing is obviously of great benefit because it identifies
the problem before brain damage occurs.
THANK YOU FOR YOUR SUPPORT
The Arc-California wishes to express its appreciation to
those who took the time to communicate to the author
(LeRoy Greene), their own legislator, and/or the governor
regarding this bill. Without this input of support, it
is doubtful that the bill would have been approved.