BILL ANALYSIS �
SENATE COMMITTEE ON HEALTH
Senator Ed Hernandez, O.D., Chair
BILL NO: SB 224
AUTHOR: Walters
INTRODUCED: February 11, 2013
HEARING DATE: April 3, 2013
CONSULTANT: Robinson-Taylor
SUBJECT : Newborn screening program.
SUMMARY : Requires the California Department of Public Health
(DPH), until January 1, 2019, to expand statewide screening of
newborns to include screening for Hurler syndrome and Krabbe
disease.
Existing law:
1.Requires DPH to develop a genetic disease testing program.
Requires newborn screening for preventable heritable or
congenital disorders leading to physical defects or
intellectual disabilities. Requires newborn screening for
sickle cell anemia, phenylketonuria, and severe combined
immunodeficiency (SCID). Also requires tandem mass
spectrometry (TMS) screening in newborns for fatty acid
oxidation, amino acid and organic acid disorders, and
congenital adrenal hyperplasia.
2.Requires DPH to establish a genetic disease unit to coordinate
programs in the area of genetic disease and evaluate and
prepare recommendations on the implementation of tests for the
detection of certain hereditary and congenital diseases.
Requires DPH to provide genetic screening and follow-up
services. Allows DPH to provide laboratory testing facilities
or work with qualified outside labs to conduct testing.
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, health care
service plan enrollees, or persons covered by disability
insurance policies are to be paid directly to the Genetic
Disease Testing Fund, and are subject to the terms and
conditions of the health care service plan or insurance
coverage.
Continued---
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5.Requires, under regulation, testing for hereditary
hemoglobinopathies, primary congenital hypothyroidism, and
galactosemia.
This bill:
1.Requires DPH, until January 1, 2019, to expand statewide
screening of newborns to include screening for two specific
lysosomal storage disorders, Hurler syndrome and Krabbe
disease.
FISCAL EFFECT : This bill has not been heard by a fiscal
committee.
COMMENTS :
1.Author's statement. Currently, all babies in California are
screened for over 75 diseases at birth through newborn
screening. These diseases are not otherwise clinically
recognized at birth but if untreated can cause irreversible
physical and mental damage to children, with many resulting in
death For these diseases, early detection is essential to
avoid such devastating outcomes. Likewise, early detection
through newborn screening for Krabbe disease and Hurler
syndrome is crucial to give these children a chance at a
healthy life. While treatment options are available, these
treatments are only effective when given before symptoms are
present. Most often children are not diagnosed in time and,
therefore, are not able to receive these life-saving
treatments.
2.Newborn Screening Program. Newborn screening is recognized
nationally as an essential preventive health measure and an
important state-based public health program. All states in the
nation and the District of Columbia mandate newborn screening
of all infants born within their jurisdiction for certain
treatable disorders that may not otherwise be detected before
developmental disability or death occurs. Newborns with these
genetically screened disorders typically appear normal at
birth. The testing and follow-up services of newborn screening
programs are designed to provide early diagnosis and treatment
before significant, irreversible damage occurs.
Newborn screening in California falls under the auspices of DPH
and is centrally managed by the Genetic Disease Screening
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Program. Prior to leaving the hospital, a few drops of blood
from the newborn's heel are collected on filter paper.
According to DPH, currently, the cost of the test is $111.70.
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 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 2011-12, approximately 492,000
newborns were screened for 80 genetic disorders. Approximately
9,250, or under 2 percent, were classified as positive or
questionable and were referred for follow-up testing or
services.
3.Hurler Syndrome. According to the National Institutes of
Health, Hurler syndrome is an inherited disorder in which the
lack of an enzyme affects various organs and tissues,
including the brain. Hurler syndrome occurs in about 1 out of
every 100,000 babies born in the United States. A child
inherits the syndrome when he or she gets two abnormal genes,
one from each parent. Symptoms of Hurler syndrome most often
appear between ages three and eight. Infants with severe
Hurler syndrome appear normal at birth. Facial symptoms may
become more noticeable during the first two years of life.
Symptoms include:
a) Problems with mental function;
b) Heart problems, including changes in the valves;
c) Hearing problems and frequent ear infections;
d) Large head size, broad forehead and heavy eyebrows;
e) Deformed bones and stiff joints, especially the spine,
hips, knees, wrists and fingers; and
f) Breathing problems.
If the disease is not stopped, children with Hurler syndrome
usually die by five to ten years of age. The two main
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treatments for children with Hurlers syndrome are enzyme
replacement therapy and a bone marrow or cord-blood
transplant. Enzyme replacement therapy may be a good option
for children who have a form of Hurler syndrome that does not
cause problems with mental function. A bone marrow or
cord-blood transplant is the only known treatment that can
stop the progression of the mental damage caused by Hurlers
syndrome.
4.Krabbe Disease. According to the National Institute of
Neurological Disorders and Stroke, Krabbe disease is a rare,
inherited degenerative disorder of the central and peripheral
nervous systems. Krabbe disease occurs in about 1 out of
100,000 individuals in the United States. This condition is
inherited where the parents of an individual each carry one
copy of the mutated gene, but the parents typically do not
show signs and symptoms of the condition. The symptoms of
Krabbe disease usually begin before the age of one year (the
infantile form). Initial signs and symptoms typically include:
a) Irritability;
b) Muscle weakness;
c) Feeding difficulties;
d) Episodes of fever without any sign of infection; and
e) Stiff posture, and slowed mental and physical development.
As the disease progresses, muscles continue to weaken,
affecting the infant's ability to move, chew, swallow, and
breathe. Less commonly, onset of Krabbe disease can occur in
childhood, adolescence, or adulthood (late-onset forms).
Visual problems and walking difficulties are the most common
initial symptoms in this form of the disorder, however, signs
and symptoms vary considerably among affected individuals.
There is no cure for Krabbe disease. Infantile Krabbe disease
is generally fatal before age two. Results of a very small
clinical trial of patients with infantile Krabbe disease found
that children who receive cord-blood stem cells from unrelated
donors prior to symptom onset developed with little
neurological impairment. Results also showed that disease
progression stabilized faster in patients who receive cord
blood compared to those who receive adult bone marrow.
5.Uniform screening panel. The Secretary's Advisory Committee
on Heritable Disorders in Newborns and Children (SACHDNC) was
chartered in February 2003 to advise the Secretary of the U.S.
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Department of Health and Human Services (HHS) 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. In 2010,
the HHS Secretary adopted the recommendation of SACHDNC for a
uniform screening panel. The recommendations included
screening for 31 core conditions and reporting 26 secondary
conditions as a national standard for newborn screening
programs. SACHDNC also recommended that this panel of
conditions be included in all state newborn screening
programs. Lysosomal storage disorders, such as Krabbe and
Hurler syndrome, although considered, were not included in
these recommendations.
6.Methodology for adding new conditions. According to DPH,
there is no national standard process to add a disorder to a
state's screening program. Some states will add a disorder
once it is recommended by SACHDNC but prior to official
acceptance by the HHS Secretary, while other states wait for
the official acceptance by the HHS Secretary. In California
disorders have been added through the budget process or
through legislation directing the department to add a specific
disorder to the screening program.
7.Prior legislation. SB 1072 (Strickland) of 2012 would have
required DPH, until January 1, 2018, to expand statewide
screening of newborns to include screening for Hurler syndrome
and Krabbe disease. SB 1072 died in the Senate Appropriates
Committee.
SB 1731 (Block), Chapter 336, Statutes of 2012, establishes the
Newborn Critical Congenital Heart Disease (CCHD) Screening
Program and requires hospitals, beginning July 1, 2013, to
offer a pulse oximetry test for the identification of CCHD to
parents of newborns prior to discharge.
SB 395 (Pan), Chapter 461, Statutes of 2011, expands statewide
screening of newborns to include screening for SCID.
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.
AB 442 (Committee on Budget), Chapter 1161, Statutes of 2002,
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requires hospitals to collect fees associated with any tests
conducted under the state's NBS Program.
SB 537 (Greene), Chapter 1011, Statutes of 1998, requires DPH
to establish a program to provide extended newborn genetic
screening services for persons who elect to have, and pay for,
the additional screening.
8.Support. According to the sponsor, Hunter's Hope Foundation,
early detection through newborn screening is crucial for those
afflicted with Krabbe disease and Hurler syndrome to benefit
from the potentially life-saving available treatments. The
sponsor asserts that cord-blood transplantation has been shown
to significantly extend life and improve the quality of life
for children with lysosomal storage disorders. The sponsor
maintains that should California begin screening for these
diseases, significant reduction in costs can be anticipated
due to less costly care of children with Krabbe disease and
other lysosomal storage disorders when they are functional and
do not require continuous nursing care.
9.Opposition. The California Hospital Association (CHA) writes
in opposition to this bill that in California there are more
than 500,000 babies born in hospitals each year. For each of
those births, hospitals administer a newborn screening for
more than 75 genetic diseases and congenital disorders that
are preventable or remediable by early intervention testing.
CHA maintains that mandating new screenings will impose new
costs on the newborns parents, the program, the payers
(including Medi-Cal) and the providers. CHA argues that any
screening expansion must be evidence-based and implemented
only once standard protocols have been tested and it is
established that actual benefits, in terms of improved patient
outcomes, will result. Currently, CHA asserts, there are
insufficient clinical research and evidence-based reviews of
these rare conditions to provide an opinion on the extent to
which lysosomal storage disorders meet the available and
efficacy of treatment thresholds.
10.Policy Concerns.
a.California laboratory capacity. According to DPH, while the
Genetic Disease Laboratory does not currently test for
lysosomal storage disorders, the same testing method used in
New York to screen for Krabbe disease in their screening
program is used for testing on the current California newborn
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screening panel. DPH explains that the Genetic Disease
Screening Program is currently working with the Mayo Clinic to
develop effective and efficient screening strategies for 13
lysosomal storage disorders by evaluating a number of
different testing platforms to determine the most efficient
and effective screening approach.
b.Efficacy of treatment. In 2009, Krabbe disease was submitted
under a separate request to SACHDNC to be added to the uniform
screening panel. Following a comprehensive evidence review, in
a report released in 2010, Krabbe was rejected by SACHDNC
stating there was lack of consensus about the case definition
of the disease and lack of information about the specific
benefits of the current treatment. Hurler syndrome is also
currently not one of the recommended conditions by SACHDNC for
the uniform screening panel.
c.Learning from other states. According to the author, New York
has been screening all infants for Krabbe disease since 2005.
The author maintains that Missouri began screening all of its
infants last August and that Illinois, New Jersey and New
Mexico have recently passed legislation mandating newborn
screening for Krabbe disease. Potentially, some data will be
available from these states that could address the evidence
gaps raised by SACHDNC.
SUPPORT AND OPPOSITION :
Support: Hunter's Hope Foundation (sponsor)
2 individuals
Oppose: California Hospital Association
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