BILL ANALYSIS �
SB 224
Page 1
Date of Hearing: June 25, 2013
ASSEMBLY COMMITTEE ON HEALTH
Richard Pan, Chair
SB 224 (Walters) - As Amended: May 28, 2013
SENATE VOTE : 38-0
SUBJECT : Newborn screening program.
SUMMARY : Requires the Department of Public Health (DPH), until
January 1, 2019, to expand the screening of newborns in Orange
County to include screening for Krabbe disease. Specifically,
this bill :
1)Requires DPH to establish a pilot program in Orange County to
expand the newborn screening program to include the screening
of newborns for Krabbe disease.
2)States that this bill shall be known, and may be cited, as
Jacquelyn's Law.
3)Exempts DPH, for purposes of implementing the pilot program,
from existing requirements relating to personal service
contracts.
4)Sunsets the pilot program on January 1, 2019.
EXISTING LAW :
1)Requires DPH to establish a genetic disease unit (GDU) to
coordinate all DPH programs in the area of genetic disease
that will promote a statewide program of information, testing,
and counseling services and to have the responsibility of
designating tests and regulations to be used in executing this
program.
2)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
periodically adjusted in order to meet the costs of the
program.
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4)Requires the GDU to evaluate and prepare recommendations on
the implementation of tests for the detection of hereditary
and congenital diseases, including, but not limited to,
biotinidase deficiency and cystic fibrosis. Requires the GDU
to also evaluate and prepare recommendations on the
availability and effectiveness of preventative follow-up
interventions, including the use of specialized medically
necessary dietary products.
5)Requires statewide screening of newborns to include tandem
mass spectrometry screening for fatty acid oxidation, amino
acid, and organic acid disorders and congenital adrenal
hyperplasia. Also requires screening of newborns to include
screening for severe combined immunodeficiency (SCID), as soon
as possible.
FISCAL EFFECT : This bill, as amended, has not been analyzed by
a fiscal committee.
COMMENTS :
1)PURPOSE OF THIS BILL . According to the author, most children
who have Krabbe disease are not diagnosed until symptoms of
the disease begin to present themselves. Krabbe disease can
be effectively treated and therapy may lead to relatively
normal lives, but early identification is key. The author's
office references a 2005 Massachusetts Medical Society study
which concludes, transplantation of umbilical-cord blood from
unrelated donors in newborns with infantile Krabbe's disease
favorably altered the natural history of the disease.
Transplantation in babies after symptoms had developed did not
result in substantive neurologic improvement.
2)BACKGROUND . According to DPH, the State of California began
its Newborn Screening Program (CNSP) in 1966 with the testing
for phenylketonuria. In October 1980, the 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 CNSP. This also allowed
for the identification of some of the related non-sickling
hemoglobin disorders. In 1999, the CNSP implemented screening
for hemoglobin H and hemoglobin H - Constant Spring disease.
In July 2005, the CNSP was expanded to include additional
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metabolic disorders and congenital adrenal hyperplasia, and in
July of 2007, the CNSP was expanded to include cystic fibrosis
and biotinidase deficiency. Additionally, starting in August
2010, each newborn has also been screened for SCID.
Disorders screened for by CNSP have varying degrees of
severity. If identified early many of these conditions can be
treated before they cause serious health problems. Detection
of sickle cell disease in newborns makes possible early entry
into 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. Early
detection and treatment for SCID before a baby becomes sick
can help a baby survive.
Prior to leaving the hospital, a few drops of blood from the
newborn's heel are collected on filter paper. The sample is
sent to one of eight regional laboratories that contracts with
the State for testing. Parents get the test results from the
baby's doctor or clinic. It takes about two weeks for the
doctor to receive the written results.
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 clinics (California Children's
Services' Metabolic or Endocrine Clinics, Cystic Fibrosis
Centers, or Sickle Cell/Hemoglobinopathy Centers).
3)FUTURE ADDITIONS TO THE CNSP . According to DPH, with advances
occurring in screening technology, diagnostic procedures, and
treatment it may be possible to screen for additional
disorders in the future. Disorders are evaluated for being
added to the screening program based on the following
criteria:
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a) Important health problem in terms of frequency,
seriousness, and high costs of care associated with
disease/known symptoms;
b) Effective treatment exists that improves quality of
life;
c) Reliably and economically easy to detect; and,
d) Adequate methods of confirmation and follow-up.
There are other considerations, including the number of babies
screened daily, which affect whether and/or when disorders are
added to the screening program. According to DPH, they have
not been approached by any organization about adding Krabbe
disease to the newborn screening panel.
4)KRABBE DISEASE . According to the Mayo Foundation for Medical
Education and Research, Krabbe disease (KRAH-buh disease) is
an inherited, often fatal disorder affecting the central
nervous system. The disease affects muscle tone and movement,
and may cause vision and hearing loss, among other devastating
effects. In most cases, Krabbe disease develops in babies
before six months of age, although it can occur in older
children and in adults. There's no cure for Krabbe disease
and treatment mainly involves approaches designed to ease
symptoms. However, early studies using stem cell transplants
to treat Krabbe disease before symptoms begin have had some
success. Krabbe disease affects about one in every 100,000
people in the United States.
5)FEDERAL NEWBORN SCREENING DETERMINATES . In 2003 the Secretary
of the U.S. Department of Health and Human Services (HHS)
created the Secretary's Advisory Committee on Heritable
Disorders in Newborns and Children (SACHDNC) to provide advice
regarding the most appropriate application of universal
newborn screening tests. In 2010 the HHS Secretary adopted
the recommendation of SACHDNC for a uniform screening panel.
SACHDNC also recommended that this panel of conditions be
included in all state newborn screening programs. Lysosomal
storage disorders (LSDs), such as Krabbe disease, although
considered, were not included in these recommendations. The
SACHDNC determined that there are some specific gaps in the
evidence that must be addressed in order to further consider
adding Krabbe disease to the recommended uniform newborn
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screening panel.
6)POLICY COMMENT . The Chair would have concerns about expanding
the pilot program for screening Krabbe disease into the CNSP,
without a recommendation from the SACHDNC for such screening.
7)SUPPORT . Hunter's Hope Foundation is the sponsor of the bill
and writes, umbilical cord blood transplantation has been
shown to significantly extend life and to improve the quality
of life for children with LSDs. Should California begin
screening for these diseases, significant reduction in costs
can be anticipated - certainly the care of children with
Krabbe disease and other LSDs, would be much less costly when
children are functional and do not require continuous nursing
care.
Judson's Legacy is a cosponsor of the bill and writes, only
those who are diagnosed before the onset of symptoms can be
treated, making newborn screening critical for life.
Otherwise, these diseases are devastating and ultimately
fatal.
8)PREVIOUS LEGISLATION .
a) 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 Appropriations
Committee.
b) 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.
c) SB 395 (Pan), Chapter 461, Statutes of 2011, expands
statewide screening of newborns to include screening for
SCID.
d) SB 1103 (Committee on Budget and Fiscal Review), Chapter
228, Statutes of 2004, expands statewide screening of
newborns to include Tandem Mass Spectrometry screening for
fatty acid oxidation, amino acid, organic acid disorders,
and congenital adrenal hyperplasia.
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e) AB 442 (Committee on Budget), Chapter 1161, Statutes of
2002, requires hospitals to collect fees associated with
any tests conducted under CNSP.
f) 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.
REGISTERED SUPPORT / OPPOSITION :
Support
Hunter's Hope Foundation (cosponsor)
Judson's Legacy (cosponsor)
The ARC and United Cerebral Palsy California Collaboration
Opposition
None on file.
Analysis Prepared by : Lara Flynn / HEALTH / (916) 319-2097