AB 1307 (2009): Newborn Genetic Screening
Wed, 2010-02-03 02:47 — chris
Type:
Legislation
Status:
In Committee Requires the Department of Public Health (DPH) to expand
the newborn screening program by January 1, 2011. Requires
DPH to consider the most recent screening recommendations
of the American College of Medical Genetics (ACMG).
CHANGES TO EXISTING LAW
Existing law:
Establishes a program for the development, provision, and
evaluation of genetic disease testing. Allows DPH to
provide laboratory testing facilities, or make grants to,
contract with, or make payments to, any laboratory that it
deems qualified and cost-effective to conduct testing.
Requires the program to provide genetic screening and
follow-up services for persons who have the screening.
Requires the department to expand statewide screening of
newborns to include tandem mass spectrometry screening for
fatty acid oxidation, amino acid, organic acid disorders,
and congenital adrenal hyperplasia, as specified.
Continued---
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Requires the department to provide information with respect
to specified disorders and available testing resources to
all women receiving prenatal care, and to all women
admitted to a hospital for delivery. Allows the department
to obtain these testing services from public or private
laboratories using a competitive bid process, if unable to
provide them by August 1, 2005, or if it is determined to
be more cost-effective.
Requires the department to report to the Legislature
regarding the progress of the screening program on or
before July 1, 2006, including information on the costs for
screening, follow up, and treatment as compared to costs
and morbidity averted for each condition tested for in the
program.
This bill:
Implements a deadline of January 1, 2011, by which the
department is to expand statewide screening of newborns for
specified disorders.
Requires the department to consider including in the
statewide screening program the most recent recommendations
of the American College of Medical Genetics (ACMG) or
conditions recommended by another advisory body appointed
by the federal Secretary of Health and Human Services.
Requires the department to implement screening for the
recommended conditions within one year of the publication
of the recommendations, unless the department determines
that screening for a specific condition is not necessary
for the advancement of newborn health and notifies the
appropriate committees of the Legislature of the
determination.
FISCAL IMPACT
The Assembly Appropriations Committee estimates no direct
fiscal impact for DPH to continue oversight of the newborn
screening program and to remain current with clinical
recommendations with regard to screening expansions.
California currently tests for 76 disorders, including all
29 mandatory screenings recommended by ACMG. The current
cost of this test is $102.75. Private insurance plans
generally pay for the test. Medi-Cal pays for
STAFF ANALYSIS OF ASSEMBLY BILL 1307 (Buchanan) Page
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approximately 45 percent of all births in California and
also covers the cost of the test. It is unknown if the cost
of the test will increase to accommodate the additional
recommended diseases.
BACKGROUND AND DISCUSSION
The author contends that newborn screening to detect
genetic disorders can prevent severe disability, mental
retardation, or even death. Whether a newborn is screened
for particular conditions depends on where he or she is
born, because the list of conditions screened varies
greatly from state to state. Greater uniformity among
testing programs would benefit families, health
professionals, and public health agencies. To accomplish
this, AB 1307 seeks to require the California statewide
newborn screening program to include all conditions
recommended in a report by the American College of Medical
Genetics, which was commissioned by a joint effort of the
federal Maternal and Child Health Bureau and the federal
Health Resources and Services Administration. It also
encourages the state to be proactive in considering future
conditions recommended and approved by the U.S. Secretary
of Health and Human Services.
Newborn screening
Newborn screening is recognized nationally as an essential
preventive health measure. State newborn screening programs
are designed to detect newborns that are at high risk for
developing diseases with high morbidity and mortality.
Early detection allows for timely treatment with proven
clinical interventions that are effective in minimizing
disease development. The great majority of the conditions
for which newborns are screened are genetic. All states in
the nation and the District of Columbia have established
newborn screening programs.
According to DPH, California began it's Newborn Screening
Program in 1966 with the testing for phenylketonuria (PKU).
In October 1980, the program was expanded to include
glactosemia, primary congenital hypothyroidism, and a more
comprehensive follow-up system. In 1990, screening for
sickle cell disease was added. This also allowed for the
identification of some of the related non-sickling
hemoglobin disorders. In 1999, the program implemented
STAFF ANALYSIS OF ASSEMBLY BILL 1307 (Buchanan) Page
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screening for hemoglobin H and hemoglobin H- Constant
Spring disease. In July 2005, the program was expanded to
include additional metabolic disorders and congenital
adrenal hyperplasia (CAH), and in July of 2007, the program
was expanded to include cystic fibrosis and biotinidase
deficiency. This mandated statewide program is centrally
managed by the Genetic Disease Screening Program (GDSP).
Disorders screened for by the program have varying degrees
of severity. If identified early, many of these conditions
can be treated before they cause serious health problems.
Treatment for metabolic disorders varies by the condition
and can include close monitoring of the person's health,
medication, dietary supplements, avoidance of fasting
and/or special diets. Treatment for hypothyroidism and CAH
includes hormone medication. Detection of sickle cell
disease in newborns makes possible early comprehensive
care, which includes the initiation of penicillin
prophylaxis and parent education (e.g., identification of
early warning signs and preventive health measures),
factors which have been shown to reduce morbidity and
mortality. Early detection of thalassemia disorders allows
for close monitoring for infections and anemia. Ongoing
health care and close monitoring help children with
hemoglobin disorders stay as healthy as possible.
California state law requires that all babies born in the
state have the Newborn Screening (NBS) Test before leaving
the hospital, and the only legal ground for refusal to test
is if the parents cite a conflict with beliefs and
practices. A small blood sample is taken from the
newborn's heel and collected on filter paper. The sample is
sent to one of eight regional laboratories that contract
with the state for testing. The test screens for specific
metabolic, endocrine, and hemoglobin disorders, as well as
cystic fibrosis. The laboratories enter demographic data
and test results on terminals linked to the Genetic Disease
Screening Program central computer, located in Richmond.
Laboratory work is subjected to both computerized and
manual quality control checks before test results are
released. Due to biological variability of newborns and
differences in detection rates for the various disorders in
the newborn period, the Newborn Screening Program does not
identify all newborns with these conditions.
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Additions to the screening program
With advances occurring in screening technology, diagnostic
procedures, and treatment, it will be possible to screen
for additional disorders in the future. The department
considers adding disorders to the screening program based
on the following criteria: 1) the importance of the health
problem, in terms of frequency, seriousness, and high costs
of care; 2) its association with known symptoms; 3) whether
an effective treatment exists that could improve quality of
life; 4) whether the disease can be reliably and
economically detected; and, 5) whether there are adequate
measures to confirm the disorder and provide follow-up
treatment. Other considerations can also affect whether
and/or when disorders are added to the screening program.
American College of Medical Genetics (ACMG)
ACMG is an organization comprised of biochemical, clinical,
cytogenetic, medical and molecular geneticists, genetic
counselors, and other health care professionals who are
committed to the practice of medical genetics. ACMG
promotes the development and implementation of methods to
diagnose, treat, and prevent genetic diseases. In 2004, the
Maternal & Child Health Bureau of the federal Health
Resources and Services Administration entered into a
cooperative agreement with the ACMG to develop the National
Coordinating Center for Regional Genetics and Newborn
Screening Collaborative Groups. As a result, in 2005 ACMG
published Newborn Screening: Toward a Uniform Screening
Panel and System which recommends a national uniform panel
of conditions for newborn screening.
California currently tests for all of the core conditions
and core metabolic conditions recommended by ACMG. The ACMG
recommended diseases that California does not currently
test for include the following secondary target conditions:
two fatty acid disorders, Dienoyl-CoA reductase (DE-RED)
and Medium-chain ketoacyl-CoAthiolase (MCKAT); one amino
acid disorder, Tyrosinemia type III (TYR-III); and two
other metabolic disorders- galactose epimerase (GALE) and
Galactokinase (GALK).
Prior legislation
SB 527 (Steinberg) of 2008, would have required the State
Department of Developmental Services to partner with at
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least one regional center to implement a 2-year Autism
Spectrum Disorders Early Screening, Intervention, and
Treatment Pilot Program in at least 3 key geographic areas.
The pilot program would have established best practices for
early screening, diagnosis, referral, and treatment for
children with ASD. Vetoed by the Governor, who claimed the
provisions of the bill can be accomplished administratively
with funding from private, non-state general fund sources.
SB 1748 (Figueroa) of 2006, would have added biotinidase
and cystic fibrosis to the existing expansion of the
statewide newborn screening program. Would have permitted
funds from the Genetic Disease Testing Fund to be expended
to expand the Genetic Disease Branch Screening Information
System , and prohibited these funds from being subject to
Public Contract and Government Code related information
technology project contracting. Died in the Assembly
Appropriations Committee. Provisions enacted through the
2006-07 budget trailer bills.
AB 1807 (Committee on Budget), Chapter 74, Statutes of
2006, included the provisions of SB 1748, among other
things.
SB 1103 (Committee on Budget and Fiscal Review), Chapter
228, Statutes of 2004, required the Genetic Disease Branch
to include tandem mass spectrometry screening for fatty
acid oxidation, amino acid, and organic acid disorders and
congenital adrenal hyperplasia as soon as possible.
AB 2427 (Kuehl) Chapter 803, Statutes of 2000, appropriated
$3.9 million from the Genetic Disease Testing Fund in order
to support the cost of a trial program to use tandem mass
spectometry testing to detect additional hereditary
disorders.
Arguments in support
The California Medical Association supports this bill
because they believe it will give the department the
authority to keep its newborn genetic screening program
current based on uniform national guidelines that were
developed by medical experts using scientific criteria.
Robust and up-to-date newborn screening programs can help
detect, prevent, and treat genetic disease, which can save
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lives, save money, and improve quality of life. Hunter's
Hope Foundation claims that thousands of children die or
become permanently disabled needlessly every year because
they were born in states that do not screen for the maximum
number of treatable diseases possible. A child's chance for
a healthy start in life should not depend on the state in
which they are born.
PRIOR ACTIONS
Assembly Floor: 60-16
Assembly Appropriations:11-1
Assembly Health: 15-1
POSITIONS
Support: American Federation of State, County and
Municipal Employees
California Healthcare Institute
California Medical Association
California Nurses Association
Hunter's Hope Foundation
March of Dimes
Oppose: None received| Attachment | Size |
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