BILL ANALYSIS
AB 1307
Page 1
Date of Hearing: April 28, 2009
ASSEMBLY COMMITTEE ON HEALTH
Dave Jones, Chair
AB 1307 (Buchanan) - As Amended: April 22, 2009
SUBJECT : Newborn genetic screening.
SUMMARY : Requires the Department of Public Health (DPH) to
expand the Newborn Screening Program (NSP) to screen for all
conditions recommended by the American College of Medical
Genetics (ACMG), as specified. Specifically, this bill :
1)Requires DPH, prior to January 1, 2011, to expand statewide
screening of newborns to include all conditions recommended by
ACMG as of January 1, 2010.
2)Requires DPH to consider screening for additional conditions,
as recommended by ACMG or another governing body appointed to
establish recommendations for newborn screening programs and
approved by the Secretary of the United States (U.S.)
Department of Health and Human Services (DHHS).
3)Requires DPH to adopt recommendations for screening within one
year of receipt of the recommendations of ACMG or other
DHHS-approved governing body, unless DPH determines the
screening is not necessary for advancing newborn health, and
notifies the appropriate committees of jurisdiction in the
Legislature of this determination.
EXISTING LAW :
1)Requires DPH to establish a genetic disease unit that promotes
a statewide program of information, testing, and counseling
services which must be in accordance with accepted medical
practices and administered to each child born in California.
2)Authorizes DPH to provide laboratory testing facilities or to
make grants to, contract with, or make payments to other
laboratories to conduct genetic testing. Authorizes DPH to
make grants to, contract with, or make payments to a metabolic
specialty clinic to provide necessary treatment for genetic
diseases.
3)Requires DPH to expand statewide screening of newborns to
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include numerous specified disorders, and to provide
information about these disorders and available testing
resources to all women receiving prenatal care and all women
admitted to a hospital for a delivery.
4)Requires DPH to establish regulations and standards as deemed
necessary to promote and protect public health and safety. In
regulations, requires each newborn to be tested for specified
genetic disorders, except if the parents object based on
personal beliefs.
5)Establishes the Genetic Disease Testing Fund (Fund) in the
State Treasury, states the intent of the Legislature that the
Fund be fully fee-supported, and authorizes DPH to collect
fees for screening tests.
FISCAL EFFECT : This bill has not been analyzed by a fiscal
committee.
COMMENTS :
1)PURPOSE OF THIS BILL . The author of this bill states that
screening newborns to detect genetic disorders such as
sickle-cell anemia and phenylketonuria (PKU; a body chemistry
disorder that, if untreated, causes mental retardation) can
prevent severe disability, mental retardation, or even death.
Whether a newborn is screened for particular conditions
depends on where in the country the baby is born. The author
states the development of better screening tools prompted the
federal Maternal and Child Health Bureau of the Health
Resources and Services Administration (HRSA) to commission
ACMG to prepare a report on newborn screening and recommend a
uniform panel of conditions for which newborns should be
screened. According to the author, this bill is needed
because greater uniformity among newborn screening programs
would benefit families, professionals, and public health
agencies. The author contends that newborn screening may also
save the state money on future medical costs based on early
detection and access to treatment of disorders.
2)BACKGROUND . Newborn screening in the U.S. is a state-based
public health program that began over 40 years ago. States
and territories require screening of all infants born in their
jurisdiction for disorders that may not otherwise be detected
before developmental disability or death occurs (babies with
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these disorders typically appear normal at birth). DPH states
effective treatments are available for most, but not all,
diseases detected by the screening program, and treatments may
include special diets or medications. ACMG examined costs and
benefits of newborn screening and concluded that most newborn
screening programs improve outcomes and reduce overall costs.
ACMG states that identification of affected individuals early
in life leads to many years over which benefits accrue.
3)DPH NEWBORN SCREENING PROGRAM . According to a DPH brochure on
newborn screening, NSP tests for specific diseases in the
following categories: a) Metabolic, which refers to chemical
reactions in the body to create energy and build tissue; b)
Endocrine, which refers to hormones that affect body
functions; c) Hemoglobin, which refers to red blood cells that
carry oxygen; and, d) Other genetic disorders, such as cystic
fibrosis. DPH states approximately one in every 760 babies,
or a total of approximately 750 California babies, are born
with one of these diseases each year. The screening tests
require a few drops of blood from the baby's heel when the
baby is between 12 hours and 6 days old. The blood is put on
special filter paper and sent to a state-approved lab for
testing. When a test is positive for a disease, the mother is
notified within a few days; negative test results are sent to
the mother's physician or clinic.
According to DPH, California currently tests for 76 genetic
disorders, including all of the 29 disorders recommended by
ACMG as mandatory, and most of the additional conditions for
which states should be testing if conditions in that state
call for it, but are not mandatory. One of the 29 mandatory
disorders is hearing loss, for which the Department of Health
Care Services (not NSP) conducts screenings.
Future Additions to NSP . DPH states the NSP will add one
disorder, severe combined immune deficiency, when the ACMG
recommendation, which is in its final stages, is approved.
ACMG is also reviewing five lysosomal storage disorders for
consideration on the required screening panel. DPH states it
does not plan to implement these tests until ACMG and the
March of Dimes officially recommend them. According to the
DPH Web site, with advances occurring in screening technology,
diagnostic procedures, and treatment, it may be possible to
screen for additional disorders in the future. DPH states
disorders are evaluated for addition to the screening program
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based on the following criteria: a) Important health problem
in terms of frequency, seriousness, and high costs of care; b)
Associated with disease/known symptoms; c) Availability of
effective treatment that improves quality of life; d) Can be
detected reliably and economically; and, e) Existence of
adequate methods of confirmation and follow-up. DPH also
states other considerations, including the number of babies
screened daily, may affect the decision to add disorders to
NSP.
4)ACMG Recommendations . In 2006, the journal Genetics in
Medicine published the ACMG guidelines for a uniform newborn
screening panel and system, which HRSA had requested. To
develop these recommendations, ACMG convened a group of
newborn screening experts who had expertise in primary care,
health policy, law, ethics, and public health, as well as
consumers, to work with other work groups and a steering
committee. The group evaluated genetic conditions based on
explicit criteria, surveyed hundreds of experts from the U.S.
and other countries, and applied the following additional
criteria to develop a required and recommended panel: a)
Availability of a screening test; b) Availability of effective
treatment; c) Adequate understanding of the condition; d)
Whether the condition is part of the differential diagnosis
for another condition; and, e) Whether the screening test
relates to a clinically significant condition. The ACMG
workgroup categorized conditions as: core panel (25
conditions); secondary targets, which means these conditions
are part of the differential diagnosis for conditions on the
core panel (29 conditions); and, not appropriate for newborn
screening.
5)PREVIOUS LEGISLATION .
a) SB 1748 (Figueroa) of 2006 would have added biotinidase
and cystic fibrosis to the NSP and extended the date by
which DPH could temporarily obtain testing services through
a competitive bid process to August 1, 2007. SB 1748 was
not heard in the Assembly Appropriations Committee at the
request of the author.
b) AB 1807 (Committee on Budget), Chapter 74, Statutes of
2006, includes the provisions of SB 1748.
c) SB 1103 (Committee on Budget and Fiscal Review), Chapter
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228, Statutes of 2004, requires DPH to add tandem mass
spectrometry screening for fatty acid oxidation, amino
acid, and organic acid disorders, and congenital adrenal
hyperplasia as soon as possible
d) AB 2427 (Kuehl) Chapter 803, Statutes of 2000,
appropriates $3.9 million from the Fund to support the cost
of the tandem mass spectrometry screening pilot program.
6)SUPPORT . The California Healthcare Institute writes in
support of this bill that it will expand access to timely
diagnosis of genetic disorders in infants thereby increasing
the utilization of appropriate treatments. The California
Nurse Association - National Nurses Organizing Committee
writes in support that newborn screening may save states money
on future medical costs based on early detection and
intervention, and that using a recognized standard prevents
having to alter the list repeatedly.
7)OPPOSITION . Kaiser Permanente (KP) writes in opposition that
KP takes into consideration ACMG recommendations, but also
looks to other sources, such as the U.S. Preventive Services
Task Force, to determine what is appropriately included in
screening programs. KP states some ACMG recommendations are
contrary to recommendations of the U.S. Preventive Services
Task Force, and argues the state would be better served by a
more thoughtful evaluation of the benefits, costs, and other
relevant considerations of individual conditions proposed for
inclusion in its mandatory genetic screening program.
8)POLICY QUESTIONS .
a) State's role . In effect, this bill codifies ACMG
recommendations for newborn screening. DPH states the NSP
already screens for every disorder on the ACMG core panel.
While DPH looks to ACMG for guidance on which disorders to
include in the NSP, DPH also has its own criteria for the
addition of screening tests. Does the author intend to
eliminate the authority of DPH to evaluate the
recommendations of ACMG?
b) Use of ACMG recommendations . Should this bill, instead
of requiring DPH to screen for all conditions recommended
by ACMG, take only the approach of this bill's second set
of provisions, which require DPH to consider screening for
additional conditions as recommended by ACMG or another
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governing body approved by the Secretary of DHHS, and to
add screening for each additional condition, unless DPH
deems it unnecessary?
c) Which ACMG recommendations ? ACMG developed a core panel
with 29 conditions and a secondary target category of 25
conditions. The author may wish to clarify whether this
bill is intended to require DPH to test for the core panel,
or both the core panel and the secondary target conditions.
d) Rather than referencing the ACMG recommendations as of
January 1, 2010, should this bill require DPH to follow or
consider the most recent ACMG recommendations?
REGISTERED SUPPORT / OPPOSITION :
Support
American Federation of State, County and Municipal Employees,
AFL-CIO
California Healthcare Institute
California Nurse Association - National Nurses Organizing
Committee
Opposition
Kaiser Permanente
Analysis Prepared by : Allegra Kim / HEALTH / (916) 319-2097