BILL ANALYSIS Ó
AB 395
Page 1
Date of Hearing: April 12, 2011
ASSEMBLY COMMITTEE ON HEALTH
William W. Monning, Chair
AB 395 (Pan) - As Amended: April 7, 2011
SUBJECT : Newborn screening program.
SUMMARY : Adds a test for the detection of severe combined
immune deficiency (SCID) to the Newborn Screening (NBS) Program.
Specifically, this bill :
1)Requires the Department of Public Health (DPH) to expand
statewide screening of newborns to include screening for SCID
as soon as possible.
2)Adds the expansion for testing for SCID to existing exemptions
for information technology contracts.
3)Deletes obsolete requirements for a report to the Legislature
that was due on July 1, 2006 with regard to the progress of
statewide screening for metabolic disorders.
EXISTING LAW :
1)Under the Hereditary Disorders Act, declares the intent of the
Legislature that the state's hereditary disorders program
activities are to be fully supported by fees collected for
services provided by the NBS Program, unless otherwise
provided.
2)Requires DPH to establish a genetic disease unit to coordinate
programs in the area of genetic disease and promote a
statewide program of information, testing, and counseling
services and to have the responsibility of designating test
and regulations to be used in executing this NBS Program.
3)Requires DPH to charge a fee for newborn screening and follow
up services, and requires the amount of the fee to be
established pursuant to regulation and periodically adjusted.
4)Requires that any fee charged for screening and follow up
services provided to Medi-Cal eligible persons or persons
covered by health insurance are to be paid directly to the
Genetic Disease Testing Fund, and are subject to the terms and
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conditions of the health care insurance.
FISCAL EFFECT : This bill has not been analyzed by a fiscal
committee.
COMMENTS :
1)PURPOSE OF THIS BILL . According to the author, the purpose of
this bill is to add SCID to the NBS Program, making it the
30th disease that is screened. The author argues that this
bill is needed to implement the recommendations of the
Secretary's Advisory Committee on Heritable Disorders in
Newborns and Children (SACHDNC) and brings the NBS Program
into alignment with the most up-to-date research, technology,
laboratory, and public health standards and practices. The
author states that SCID is the most serious primary
immunodeficiency disorder and leads to extreme susceptibility
to serious illness. The author argues that unless these
defects are corrected the child will die of opportunistic
infections before their first or second birthday.
2)BACKGROUND . All states and the District of Columbia have
established newborn screening programs. The State of
California began the NBS Program in 1966 with the testing for
phenylketonuria (PKU). In October 1980, the NBS Program was
expanded to include galactosemia, primary congenital
hypothyroidism, and a more comprehensive follow-up system. In
1990, screening for sickle cell disease was added to the NBS
Program allowing for the identification of some of the related
non-sickling hemoglobin disorders, including beta-0
thalassemia major, and Hb E-Beta Thalassemia. In 1999, the
NBS Program implemented screening for hemoglobin H and
hemoglobin H - Constant Spring disease. In July 2005 the NBS
Program was expanded to include additional metabolic disorders
and congenital adrenal hyperplasia, and in July of 2007, the
NBS Program was expanded to include cystic fibrosis and
biotinidase deficiency.
3)NEWBORN SCREENING . Prior to leaving the hospital, a few drops
of blood from the newborn's heel are collected on filter
paper. Currently, the cost of the test is $102.75. Medi-Cal
and most private insurance will pay for the test. The sample
is sent to one of eight regional laboratories that contract
with the DPH for testing. The results are sent to DPH for
data collection and quality control. Parents obtain the test
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results from the baby's doctor or clinic. It takes about two
weeks for the doctor to receive the written results. If the
baby needs more tests, parents will get a letter or a phone
call a few days after discharge from the hospital.
According to DPH, positive test results are immediately
telephoned to a follow-up coordinator at one of the Newborn
Screening Area Service Centers throughout the State. The
coordinator contacts the newborn's physician to arrange for
repeat testing. If repeat testing determines that the baby
has a disorder, the coordinator will supply the latest
clinical information on diagnosis and treatment and assist
with referrals to special care. In 2009-10, approximately
520,000 newborns were screened for 75 genetic disorders.
Approximately 9,200 or under 2% were classified as positive or
questionable and were referred for follow-up testing or
services.
Disorders screened for by the NBS Program have varying degrees
of severity. If identified early many of these conditions can
be treated before they cause serious health problems.
Treatments may include medication, dietary supplements,
avoidance of fasting and/or special diet and comprehensive
care to reduce morbidity and mortality. According to DPH, NBS
disorders cause delays in development, neurological damage,
dehydration, incorrect sex assignment, mental retardation, and
death if not treated at an early newborn age.
4)SCID . Infants with severe T-cell lymphopenia, including SCID,
often appear normal at birth and have no family history of
immunodeficiency. According to the March of Dimes, SCID is
the most serious primary immunodeficiency disorder. The
defining characteristic is the absence of T-cells and, as a
result, lack of B-cell function, the specialized white blood
cells made in the bone marrow to fight infection. These
genetic defects lead to extreme susceptibility to serious
illness. Unless these defects are corrected the child will
die of opportunistic infections before their first or second
birthday. In the past, children with this disorder were kept
in strict isolation, sometime in a plastic isolator or
"bubble." Now treatments are available to significantly
enhance the health outcomes of infants with SCID who are
presyptomatic or early symptomatic.
Based on several national studies, stem cell from either
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umbilical cord blood or bone marrow appears to be effective in
significantly decreasing the morbidity and mortality for
children with a type of SCID caused by a mutated gene on the X
chromosome. According to the Genetic Disease Screening
Program, if the treatment is provided within 3.5 months of
life, the long term survival rate is 95%, after 3.5 months it
is 60%-70%. For those with adenosine deaminase deficiency,
which affects males and females, enzyme replacement therapy
may be an alternative treatment.
5)PILOT PROJECT . Begun in August 2010, DPH is participating in
a pilot project to test for SCID sponsored by the Jeffrey
Modell Foundation and the National Institute for Health.
According to the March of Dimes, all babies born in California
since the pilot began have been screened. Out of 235,686
babies screened, seven have been identified as SCID babies.
The March of Dimes reports that all are being treated. The
pilot has also lead to the identification of four other babies
with T-cell Lymphopenia.
6)SACHDNC . In May 2010, Secretary Sibelius of the federal
Health and Human Services (HHS) adopted the SACHDNC
recommendation of a Uniform Screening Panel which was to
screen for the identified 29 core conditions and report on the
identified 25 secondary conditions as a national standard and
also adopted the recommendation to add SCID as a core
condition and the related T-cell lymphocyte deficiencies to
the list of secondary targets which updated the Recommended
Uniform Screening Panel to 30 core conditions and reporting on
26 secondary conditions.
SACHDNC was chartered in February 2003 to advise the HHS
Secretary regarding the most appropriate application of
universal newborn screening tests, technologies, policies,
guidelines and standards for effectively reducing morbidity
and mortality in newborns and children having, or at risk for,
heritable disorders. SACHDNC assists the HHS Secretary,
specifically by providing:
a) Advice and recommendations concerning the grants and
projects authorized under the Heritable Disorders Program;
b) Technical information to develop policies and priorities
for this NBS Program that will enhance the ability of the
State and local health agencies to provide for newborn and
child screening, counseling, and health care services for
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newborns and children having or at risk for heritable
disorders; and,
c) Recommendations, advice, or information that may be
necessary to enhance, expand or improve the ability of the
Secretary to reduce the mortality or morbidity in newborns
and children from heritable disorders.
7)METHODOLOGY FOR ADDING NEW CONDITONS . According to DPH, the
NBS Program is recognized nationally as an essential
preventive health measure. However in 2004, at least 42
states were screening for more disorders than California. At
that time SB 142 (Alpert), Chapter 687, Statutes of 2004,
required the statewide screening of newborns to include tandem
mass (TMS) spectrometry for a number of new disorders and
required the investigation of testing for additional metabolic
disorders. According to DPH, testing for disorders was added
when there was a method to screen for the specific disorder
that was generally recognized by the American College of
Medical Genetics. Some disorders were added administratively,
through the budget process, while others were added by
legislation directing the department to add a specific
disorder to the screening panel.
8)SUPPORT : According to the March of Dimes, sponsors of this
bill, literature and other state's experience indicated that
the incidence was one out of 100,000 babies, but the
California study is showing closer to one out of 35,000. The
babies identified are all being treated at California
hospitals, however the sponsors state in support that the new
lower incidence estimates substantiate the need to permanently
add SCID to the NBS Program.
The American Congress of Obstetricians and Gynecologists (ACOG),
District IX California, also in support, states that within
the U.S., SCID occurs in at least one out of every 50,000 to
100,000 births. However, research has shown that the disorder
can be treated and cured if caught early enough. According to
ACOG the Journal of the American Society of Hematology
recently published a study, which found that babies with SCID
who are diagnosed at birth and receive hemapoietic stem cell
transplants have a significantly greater chance of survival.
According to the Immune Deficiency Foundation, if a newborn
with SCID receives a stem cell transplant from healthy bone
marrow within 3.5 months of lie, the survival rate can be as
high as 94%. For this reason, ACOG is supporting this bill to
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ass SCID to the NBS Program.
9)PRIOR LEGISLATION .
a) SB 142 (Alpert), Chapter 687, Statutes of 2004, provided
DPH one additional month (from July 1, 2005 to August 1,
2005) before being required to expand newborn screening
through a competitive bid process.
b) SB 1103 (Senate Budget and Fiscal Review), Chapter 228,
Statutes of 2004, expanded statewide screening of newborns
to include TMS screening for fatty acid oxidation, amino
acid, organic acid disorders, and congenital adrenal
hyperplasia and provided that if DPH was unable to provide
this screening by July 1, 2005, required screening for
these disorders to be obtained from one or more
laboratories. Provided specified flexibility to amend
contracts for implementation of the TMS screening.
c) AB 442 (Committee on Budget), Chapter 1161, Statutes of
2002, required hospitals to collect fees associated with
any tests conducted under the State's NBS Program and made
an outreach and community awareness process for this
program voluntary, versus mandatory.
d) AB 2427 (Kuehl), Chapter 803, Statutes of 2000, revised
the pilot and stated legislative intent that unless
otherwise specified, the NBS Program carried out is to be
fully supported from fees collected for services provided
by the NBS Program, required DPH to charge a fee from all
payers for and provides that the funds were to be deposited
in the Genetic Disease Testing Fund which is continuously
appropriated.
e) SB 148 (Alpert), Chapter 541, Statutes of 1999, required
health care service plans and specified disability insurers
to provide coverage for the testing and treatment of PKU, a
genetic disorder.
f) SB 537 (Greene), Chapter 1011, Statutes of 1998, created
a trial program for the use of TMS to screen for treatable
genetic diseases under California's newborn screening
program funded by fees paid voluntarily into the Genetic
Disease Testing Fund by the family.
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REGISTERED SUPPORT / OPPOSITION :
Support
March of Dimes (sponsor)
American Congress of Obstetricians and Gynecologists, District
IX California
California Medical Association
Opposition
None on file.
Analysis Prepared by : Marjorie Swartz / HEALTH / (916)
319-2097