BILL ANALYSIS �
SENATE COMMITTEE ON HEALTH
Senator Ed Hernandez, O.D., Chair
BILL NO: SB 1072
AUTHOR: Strickland
AMENDED: April 12, 2012
HEARING DATE: April 18, 2012
CONSULTANT: Orr
SUBJECT : Newborn screening program.
SUMMARY : Requires the California Department of Public Health
(CDPH) to expand statewide screening of newborns to include
screening for six types of lysosomal storage diseases (LSDs).
Existing law:
1.Requires CDPH to develop a genetic disease testing program.
Requires newborn screening (NBS) for preventable heritable or
congenital disorders leading to physical defects or
intellectual disabilities. Requires NBS for sickle cell
anemia, phenylketonuria, and severe combined immunodeficiency
(SCID). Also requires tandem mass spectrometry screening in
newborns for fatty acid oxidation, amino acid and organic acid
disorders, and congenital adrenal hyperplasia.
2.Requires CDPH 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 CDPH to provide genetic screening and
follow-up services. Allows CDPH to provide laboratory testing
facilities or work with qualified outside labs to conduct
testing.
3.Requires CDPH to charge a fee for NBS 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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Existing regulations: Require testing for hereditary
hemoglobinopathies, primary congenital hypothyroidism, and
galactosemia.
This bill: Requires CDPH to expand statewide screening of
newborns to include screening for specific LSDs: Fabry disease,
Gaucher disease, Hurler syndrome (MPS1), Krabbe disease,
Niemann-Pick disease, and Pompe disease, and makes a technical,
conforming change.
FISCAL EFFECT : This bill has not been analyzed by a fiscal
committee.
COMMENTS :
1.Author's statement. According to the author, this bill, named
Jacqueline's Bill, adds six lysosomal storage diseases to the
NBS program. These diseases can be cost-effectively screened
for and then parents can pursue medical treatment options
before the child becomes symptomatic. Treatment before these
children become symptomatic is vital, because treatment later
is not effective. The author believes that we need to give
parents as much information as possible. These diseases are
devastating and we need to let parents know as soon as
possible so they can pursue all available medical options.
2.Newborn screening. According to the Centers for Disease
Control and Prevention (CDC), NBS tests infants shortly after
birth for serious or life-threatening metabolic and other
conditions that, when detected early, might be managed or
treated to prevent death, disability, or other severe
consequences such as mental retardation. These tests are
conducted using a few drops of blood collected from newborns
before hospital discharge that are spotted on filter paper
cards. Although NBS programs are primarily funded by user
fees, state and federal public health system funding often is
necessary to support the comprehensive programs, which include
education, laboratory screening, follow-up and tracking,
diagnosis, treatment and management, and evaluation.
3.Lysosomal storage diseases. According to a study in
Pediatrics, the journal of the American Academy of Pediatrics,
LSDs are rare inborn errors of metabolism that result from the
deficiency of one or more enzymes located within the lysosome.
There are over 50 identified LSDs, with a combined incidence
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of 1 in 1,500 to 7,000 live births. LSDs classically have not
been considered disorders of the newborn. However, a portion
of patients with LSDs can be mildly symptomatic as early as
the first few days of life or even before birth. The study
contends that it is likely that the incidence of early
manifestations of LSDs is vastly underestimated. LSDs are
sufficiently rare that most practitioners are unaware of their
signs and symptoms, leading to diagnostic odysseys and delayed
diagnoses, according to the American College of Medical
Genetics (ACMG).
The recent development and availability of enzyme-replacement
therapy (ERT) for several of the LSDs makes diagnosis early in
the clinical course particularly important, according to the
study. The study claims that early diagnosis and intervention
is essential for maximizing the potential benefit from some of
these therapies and may prevent irreversible organ damage.
Early diagnosis can provide parents with realistic information
about their child's prognosis and can enable appropriate
genetic counseling for future pregnancies.
4.Symptoms, prognoses and treatment options. According to the
National Institute of Neurological Disorders and Stroke, Fabry
disease symptoms usually begin during childhood or
adolescence. The disease can cause an enlarged heart and
gastrointestinal difficulties and damage other organs. Fabry
disease often leads to premature death due to complications
from strokes, heard disease, and renal failure. ERT has been
approved to treat Fabry disease. Estimates of its prevalence
in the population range from 1 in 40,000 to 50,000 but some
pilots have shown 1 in 1,000 to 1,500.
Gaucher disease is the most common of the inherited metabolic
disorders, and symptoms may include skeletal disorders, an
enlarged spleen and liver and anemia. Its prevalence is
estimated at 1 in 40,000. There are three subtypes of Gaucher
and symptoms may begin early in life or in adulthood, in part
depending on the type. For instance, type 1 symptoms may
appear at any age, and many patients may have a mild form of
the diseases and do not know it. Symptoms of type 2 are often
apparent by three months of age, and children afflicted with
this type usually die before age two. Patients with Gaucher
could require spleen removal surgery, joint replacement
surgery, or blood transfusions. ERT may be useful for types 1
and 3 only. Bone marrow transplantation can also be helpful
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for type 1 patients, but the procedure carries a high risk and
is rarely performed.
Hurler syndrome (a subtype of MPS 1) often becomes apparent
between ages three and eight. Infants with severe Hurler
appear normal at birth, but eventually develop symptoms such
as cloudy corneas, deafness, halted growth, joint disease, or
heart valve problems. ERT is a treatment option, and bone
marrow transplant treatment has had mixed results. Children
with this disease develop nervous system problems and can die
young.
Krabbe disease most often affects infants, with onset before
age 6 months, but can also occur in adolescence or adulthood.
Symptoms include limb stiffness, seizures, vomiting, and
slowing of mental and motor development, and may also include
deafness or blindness. Infantile Krabbe disease is generally
fatal before age 2. The prognosis may be significantly better
for children who receive umbilical cord blood stem cells prior
to disease onset or early bone marrow transplantation. Bone
marrow transplantation has also been shown to benefit mild
cases of Krabbe disease early in the course of the disease.
Juvenile- or adult-onset cases of Krabbe disease generally
have a milder course of the disease and live significantly
longer. Krabbe disease is estimated to affect approximately 1
in 100,000 people.
Neimann-Pick disease has subtypes A, B, C and D. Type A, the
most severe form, occurs in early infancy and is characterized
by an enlarged liver and spleen, swollen lymph nodes, and
profound brain damage by six months of age. Type A has no cure
or treatment, and children rarely live beyond 18 months. Type
B usually occurs in adolescence and cause an enlarged liver
and spleen. Types C and D may appear early in life or develop
in the teen or adult years, and can cause extensive brain
damage. It is unknown how prevalent Neimann-Pick disease is in
the general population.
Pompe disease disables the heart and skeletal muscles.
Early-onset symptoms begin in the first months of life with
muscle weakness, poor weight gain, and an enlarged heart.
Babies with early-onset of Pompe disease often die from
cardiac or respiratory complications before age one. Clinical
trials have shown ERT to be an effective treatment for
decreasing heart size and improving muscle function. The FDA
also recently approved a drug to treat infants and children
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with Pompe disease. For individuals with late- onset Pompe
disease, the prognosis is dependent upon the age of onset. It
is estimated to affect 1 in 40,000 people.
5.Uniform screening panel. In 2010, the Secretary of the U.S.
Department of Health and Human Services (HHS) adopted the
recommendation of the Secretary's Advisory Committee on
Heritable Disorders in Newborns and Children (SACHDNC) for a
uniform screening panel. There are minimum criteria required
for inclusion to the nationally recommended list of disorders;
such criteria include screening accuracy, diagnosis,
treatment, prevalence rate, or outcome. These recommendations
included screening for 30 core conditions and reporting 26
secondary conditions as a national standard for NBS programs.
SACHDNC also recommended that this panel of conditions be
included into all state NBS programs. The list of core and
secondary conditions includes metabolic disorders, endocrine
disorders, hemoglobin disorders, and also includes testing for
hearing loss and SCID. No LSDs were included in these
recommendations.
Some groups have submitted separate requests to SACHDNC to add
the individual LSDs addressed in this bill, with the
exceptions of Hurler syndrome and Gaucher disease, to the
uniform screening panel. Fabry, Krabbe, Neiman-Pick A and B,
and Pompe were all rejected by SACHDNC. Fabry was rejected due
to the variable and late onset of the disease (more than 10
years), the lack of published data on preventive treatment
early in life, some risk of immunologic response to ERT, and
lack of certainty that screening newborns can discern those
patients at highest risk of severe symptoms. For Krabbe, there
was lack of consensus about the case definition of the disease
and lack of information about the specific benefits of the
current treatment. Neimann-Pick A and B were rejected because
there was no population-based data, discerning type A from B
was not always possible, there was no approved treatment, and
no published studies to show the efficacy of treatment in
humans, especially for those most likely to benefit early in
life. For Pompe, SACHDNC believed the screening test needed to
be improved, a standardized method of diagnosis after a
positive newborn screen should be required, and more data are
required about the benefit and harm of diagnosing late-onset
Pompe disease during infancy.
6.Methodology for adding new conditions. There is no federal
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requirement to add a disorder to a state's screening program.
Some states will add a disorder once it is recommended by
SACHDNC, and other states wait for the official acceptance of
the disorder by the HHS Secretary. In California, disorders
have been added through legislation or administratively by the
CDPH director. While California typically waits for the
official acceptance of the disease by the HHS Secretary, CDPH
may also evaluate additional disorders for addition into the
NBS program using the following criteria: 1) importance of the
health problem in terms of frequency, seriousness, and high
costs of care; 2) conditions associated with the disease/known
symptoms; 3) existence of effective treatment that improves
quality of life; 4) easiness of the disease detection,
reliably and economically; 5) adequacy of methods for
confirmation and follow-up. There can be other
considerations, including the number of babies screened daily,
which may affect whether and/or when disorders are added to
the screening program.
Currently, California screens for over 70 conditions. The most
recent addition to California's screening program is SCID,
added in 2011. SCID had been added to SACHDNC's uniform
screening panel and CDPH had already been participating in a
pilot project sponsored by the Jeffrey Modell Foundation and
the National Institutes of Health, to begin testing newborns
for SCID in August of 2010. According to the March of Dimes,
all babies born in California since that pilot began have been
screened for SCID. The pilot led to seven babies being
identified as SCID babies, and four more babies being
diagnosed with T-cell lymphopenia. These data showed the rate
of SCID to be 1 in 35,000 in California while it was
previously estimated to be 1 in 100,000.
7.Related legislation. AB 1731 (Block) would require general
acute care hospitals with licensed perinatal services to offer
to parents of a newborn, prior to discharge, a pulse oximetry
test for the identification of critical congenital heart
disease (CCHD). AB 1731 would also require these hospitals to
develop a CCHD screening program, as prescribed. AB 1731 would
also require CDPH to phase in implementation of a
comprehensive CCHD screening program on or after July 1, 2013,
and require 100 percent participation by these hospitals by
December 31, 2016.
8.Prior legislation. SB 395 (Pan), Chapter 461, Statutes of
2011, expanded statewide screening of newborns to include
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screening for SCID.
SB 1103 (Senate Budget and Fiscal Review), Chapter 228,
Statutes of 2004, expanded statewide screening of newborns to
include tandem mass spectrometry screening (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,
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.
9.Support. Hunter's Hope, the sponsor of the bill, writes that
this bill is named in honor of Jacquelyn Scott, a Californian
who was diagnosed with Krabbe Leukodystrophy after it was too
late for her to receive lifesaving treatment through cord
blood transplantation. Hunter's Hope believes that early
detection through NBS for Krabbe and other lysosomal storage
disorders is crucial. They claim that treatment options are
available, however, these treatments are only effective when
given before symptoms become present. Most often, children
are not diagnosed in time and therefore, are not able to
receive these lifesaving treatments. Hunter's Hope claims
that by providing early diagnosis for the diseases listed in
this bill, hundreds of thousands of dollars, if not millions,
will be saved each year.
10.Opposition. Members of an advisory panel on NBS for
metabolic disorders to CDPH's Genetic Disease Screening
Program write in opposition to this bill, claiming that the
available science and technology are inadequate to meet the
goals of this legislation. They reference SACHDNC's
recommendations, and claim that those decisions are based on a
rigorous evidence review process of the quality of the
screening test, the frequency of the conditions, the efficacy
of preemptive treatments and the cost-effectiveness of the
screen. They concur with the SACHDNC recommendations and feel
it is ill-advised to mandate testing for these LSDs at this
time in California. They claim that unapproved conditions like
these LSDs should only be screened for as part of a
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well-funded and monitored experimental pilot program.
11.Policy concerns.
a. Other LSD diseases. There are over 50 identified LSDs.
It is unclear why these six specific diseases have been
singled out for inclusion in the California NBS panel.
b. Lab capacity. ACMG contends that an essential
component of an LSD screening program is an experienced
laboratory for rapid and accurate enzymatic and molecular
testing. The laboratory must incorporate appropriate
quality assurance and proficiency testing programs
including sample sharing between laboratories. ACMG
contends that there are currently only a few laboratories
around the world with the required expertise and
experience to do this. It is unknown if the current labs
in California tasked with performing the existing panel of
required tests have the technology and capacity to add
these additional tests.
c. Screening cost. The additional cost of adding these
named diseases in California is currently unknown and may
depend on the type of test used. For example, in Illinois
it was determined that $17 would need to be added to the
NBS fee to cover the cost of testing for 7 LSDs using
tandem mass spectrometry. Another testing method was found
to be less expensive with the reagents and equipment
costing about $1 per patient per test (ex: $5 for 5 LSDs),
but this did not include costs for technician time and
follow-up services.
d. Adult-onset LSDs. According to ACMG, there are many
ethical considerations in screening newborns for LSDs.
They claim that screening newborns will inevitably
identify adult- or late-onset variants of these diseases,
but some of these patients may never develop symptoms or
require therapy. Consumers vary in their desire to detect
late-onset disorders in the neonatal period. Ongoing
counseling and support for patients and families may be
required to minimize the anxiety and psychosocial effects
of early detection for adult onset LSDs.
e. Care coordination for patients with LSDs. Generally,
care of LSD patients is coordinated by biochemical
geneticists or metabolic disease specialists at centers
equipped to handle the complex, multidisciplinary needs of
LSD patients. ACMG points out that such trained
individuals and centers are currently in short supply.
Even within centers, caring for LSD patients often
requires special expertise and facilities for the
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treatment of children and adults, and involves a
significant amount of unreimbursed time from physicians
and their staff. Even if the patient can be seen by the
appropriate specialist, they may only be capable of making
recommendations for testing and treatment, which must then
be arranged by the primary care physician- something many
are ill-equipped to do. Many patients must also travel
great distances to receive weekly or biweekly drug
infusions, even if a local infusion center is available.
12.Alternatives. In light of the outstanding issues listed by
SACHDNC and the concerns expressed by the geneticists on the
CDPH advisory panel, the author may wish to consider
alternatives. One option would be narrow this bill to require
screening for the disease that has the most consensus in the
scientific community and may have the highest potential for
harm reduction or have the best prognoses with early
identification and treatment. If this isn't clear, the author
may wish to direct CDPH to utilize its advisory committee to
assist in the evaluation of these diseases.
SUPPORT AND OPPOSITION :
Support: Hunter's Hope Foundation (sponsor)
Association of Regional Center Agencies
EveryLife Foundation for Rare Diseases
Fabry Support & Information Group
National Gaucher Foundation
National MPS Society
The Peace, Love & Trevor Foundation
The Ryan Foundation for MPS Children
258 individuals
Oppose:California Hospital Association
California Medical Association
Five individuals
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