BILL ANALYSIS Ó
AB 170
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Date of Hearing: April 28, 2015
ASSEMBLY COMMITTEE ON HEALTH
Rob Bonta, Chair
AB 170
Gatto - As Amended April 21, 2015
SUBJECT: Newborn screening: genetic diseases: blood samples
collected.
SUMMARY: Requires Department of Public Health (DPH) to provide
information about the genetic disease screening tests and obtain
a signed informational acknowledgment form for the receipt of
information by the parent or guardian of a newborn child
regarding the storage, retention, and use of the newborn child's
blood sample for medical research. Specifically, this bill:
1)Permits a parent or legal guardian of a minor, or an
individual who is at least 18 years of age, to request that
DPH destroy the blood sample of the minor collected as a
newborn, or not use it for research purposes, or both.
2)Requires DPH to comply with any requests to destroy the blood
sample of the minor collected as a newborn, or not use it for
research purposes, or both.
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3)Requires DPH to prepare and provide informational materials
regarding newborn child blood samples collected that include,
but are not limited to, all of the following:
a) Storage, retention, and use of the blood sample;
b) The parent or legal guardian's right to request that his
or her minor child's blood sample be destroyed or not used
for research purposes, or both, and the information
necessary to make that request; and,
c) The right of an individual who is at least 18 years of
age to request that his or her blood sample be destroyed or
not used for research purposes, or both, and the
information necessary to make that request.
4)Requires informational materials to be confined to a single
page and presented in a separate document from informational
materials pertaining to the newborn screening program.
5)Requires the informational materials and the standard
informational acceptance form prepared to be distributed as
follows:
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a) Requires maternity care providers to provide a pregnant
woman, prior to the estimated date of delivery, with a copy
of the informational materials and a copy of the standard
informational acceptance form provided by DPH.
b) Requires every perinatal licensed health facility to
provide each pregnant woman admitted for delivery with a
copy of the informational materials and a copy of the
standard informational acceptance form provided by DPH,
prior to collection of the blood sample, if that
information or standard informational acceptance form was
not provided at the perinatal care visit.
6)Requires DPH to provide to a parent or legal guardian a
standard informational acceptance form regarding the options
for newborn child screening and retention of newborn child
blood samples collected. The standard informational
acceptance form must include all of the following:
a) A brief, plain language explanation of, and the purpose
for, the newborn child screening test and retention of
newborn child blood samples collected pursuant to this
article;
b) A description of the benefits of both early newborn
child screening and the associated research undertaken
regarding preventable heritable or congenital disorders;
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c) A description of the California Biobank Program,
specifically as it pertains to the Genetic Disease
Screening Program, and subsequent storage, retention, and
use of the newborn child's blood sample for medical
research;
d) A space for the parent or legal guardian of the newborn
child to acknowledge receipt of informational materials
regarding the newborn child screening test, and the
storage, retention, and use of the newborn child's blood
sample for medical research; and,
e) A space for the parent or legal guardian of the newborn
child to sign and date the form.
7)Requires a copy of the standard informational acceptance form
to be maintained with the newborn child's medical records.
EXISTING LAW:
1)Requires DPH to establish a genetic disease unit 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 and to have the responsibility of designating tests
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and regulations to be used in executing the California Newborn
Screening Program (CNSP).
2)Requires DPH to provide genetic screening and follow-up
services. Allows DPH to provide laboratory (lab) 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 CNSP.
4)Requires DPH 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 DPH 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, and to include screening for severe combined
immunodeficiency, as soon as possible.
FISCAL EFFECT: This bill has not yet been analyzed by a fiscal
committee.
COMMENTS:
1)PURPOSE OF THIS BILL. According to the author, newborn
screening is one of the great public health success stories in
this country, but what happens to the samples after the
screening process is completed raises serious and troubling
questions of consent and privacy. In the case of California
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and a handful of other states, these samples are indefinitely
stored in state repositories and made available to researchers
for a fee. The author states that most parents are poorly
informed, if at all, about the storage and medical research of
these samples.
The author argues that parents are assumed to have consented to
long-term storage and third-party use of their child's
biological sample unless they explicitly refuse in writing.
California must revise its approach to long-term storage and
use of newborn Deoxyribonucleic acid (DNA) samples, and
include parents in the decision-making process. It is
imperative for both the health of this program and
Californians' continued trust in their government that parents
be fully informed of the Biobank program and the intended
future use of their child's DNA.
The author concludes that this bill will ensure that parents
have the right to protect their children's genetic privacy.
Parents, understandably, want to be actively involved in
decision-making regarding their children's personal health
information. That choice is currently being denied.
2)BACKGROUND. In 1966 California began its CNSP with the
testing of phenylketonuria. Since its creation, the CNSP has
been expanded several times as new discoveries are made and
tests developed and now screens for more than 70 disorders.
Diseases have been continually added through regulation and
legislation.
a) CNSP. Prior to leaving the hospital, a few drops of
blood from the newborn's heel are collected on filter
paper. The newborn screening test should be done when the
baby is at least 12 hours of age but before six days of
age. The ideal time to do the test is when the baby is
between 24 and 48 hours of age. Blood collected before 12
hours of age is not always reliable for some metabolic
diseases. The sample is sent to one of eight regional labs
that contract with the DPH for testing. The results are
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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
get a letter or a phone call a few days after discharge
from the hospital. 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 CNSP 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. This test screens
for specific diseases in the following groups:
i) Metabolic: chemical reactions in the body to create
energy and build tissue;
ii) Endocrine: hormones that affect body functions;
iii) Hemoglobin: red blood cells that carry oxygen;
iv) Other genetic diseases;
v) Cystic Fibrosis; and,
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vi) Severe Combined Immunodeficiency.
CNSP disorders cause delays in development, neurological damage,
dehydration, incorrect sex assignment, mental retardation, and
death if not treated at an early newborn age. In California
about one out of every 600 babies tested will have one of these
conditions or diseases.
Current regulations permit a parent to decline the test. A
parent must then sign a special form that states that not having
the test done can result in serious illness or permanent damage
to their child. It also states that the parent must accept
responsibility should this occur.
b) California BioBank. DPH maintains a large and diverse
biobank, the California Biobank Program, which houses over
17.5 million prenatal serum samples and newborn leftover
blood spots. These samples were collected for testing by
the Prenatal and Screening Program and CNSP that are
administered by the Genetic Disease Screening Program
(GDSP) and are linked to GDSP data and California Birth
Defects Monitoring Program (CBDMP) registry data. The
samples and data are also linked to the State Registrar of
Vital Statistics databases that include fetal death, live
birth and death data. The California Biobank Program (CBP)
is an internationally recognized public health asset
because of its large size and culturally, geographically
and genetically diverse population. The CBP is unique in
that no other state or international effort approaches its
scale in terms of the number and quality of specimens
collected and preserved annually, the number of historic
specimens, and existing linkage with statewide prenatal and
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newborn screening program data, birth defects data, CBDMP
data and other population databases.
3)SUPPORT. The Council for Responsible Genetics (CRG) states in
support of the bill that it will assist parents in California
in making a truly informed choice about whether the state of
California shall permanently retain and use their children's
personal genetic information. Before they are even a week
old, 98% of the 4.3 million babies born annually in the United
States have a small sample of blood taken from their heels.
These newborn bloodspots (NBS) are then screened for a variety
of inherited conditions and are often later stored in
state-operated databases. Newborn screening itself is an
important public health program, but while there are concrete
benefits of newborn testing there are also troubling consent
and privacy issues raised by the storage and use of the
samples long after the screening process has concluded. CRG
states that with respect to sample storage and use, there is
little transparency regarding storage procedures or the use of
the samples after they have been screened. CRG argues not
only do most parents never realize they have "consented" to
storage of their children's biological material, they fail to
understand that the actual state government (as opposed to the
hospital) is the entity in possession of this sample.
CRG argues that several studies have shown that the vast
majority of parents want to be actively involved in decision
making regarding their children's personal health information,
want the choice as to whether the state should maintain their
child's sample after screening is completed and most oppose
the indefinite storage and use of such samples without
consent. Even though parents want informed consent to store
and use the samples, many states including California do not
have clearly articulated policies about consent for the
storage and use of samples, do not effectively communicate
these policies to parents and do not offer parents a truly
informed choice about whether to participate in storage and
subsequent use procedures, including human subject research.
CRG further states that the concern of parents that states
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retain their children's biological information is heightened
because storage procedures and security at these state
facilities are arcane and there are laws that truly protect
the privacy of genetic information. Californians are
enthusiastic about the promise of genetic medicine; but are
understandably fearful about how this powerful information can
be abused. The sheer amount of genetic data being generated
today, and its commercialization, raises serious medical
privacy concerns. Many individuals are legitimately concerned
that their genetic information will be used against them and
are unwilling to participate in medical research or be tested
clinically, even when they are at risk for serious disease.
CRG concludes that the government has not classified the
collection and use of NBS data as research and it's unclear
whether the Common Rule, which requires informed consent for
human subject research, would apply. This lack of clarity
leaves newborn data ripe for misuse.
The American Federation of State, County and Municipal
Employees (AFSCME), states in support that it provides parents
the tools necessary to be fully informed on why and how their
child's blood samples are being used by DPH.
4)OPPOSITION. The California Hospital Association (CHA),
California Healthcare Institute, Advanced Medical Technology
Association, and Biocom write in opposition to a previous
version of the bill that the net result of this bill would be
to decrease the number of newborns tested for these
devastating disorders which can be prevented or ameliorated if
detected. Opponents write that the mothers who are most
likely to decline the testing are those without insurance or
with high deductibles, and mothers who are inordinately
suspicious of government while other mothers might decline
testing due to their lack of understanding of science and
medicine. CHA further states that this bill would also
increase the administrative burdens on hospitals, physicians,
and new mothers which, in turn, will increase health care
costs. Finally, according to the opposition, this bill bill
would increase the legal liability on hospitals and
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physicians; if a mom opts out of testing her baby, and her
baby has one of these devastating disorders which could have
been detected, she will likely sue physician and/or hospital.
The University of Southern California states in opposition to a
previous version of the bill that the current California
bloodspot database serves as an important resource to assist
in the early identification of these rare diseases.
California's database is internationally recognized as a
critical public health asset and allows for the study of these
rare diseases among its diverse communities.
The American Academy of Pediatrics, California and March of
Dimes California Chapter (March of Dimes) writes in opposition
to a previous version of the bill that they oppose any
amendments that would link consent for storage and research of
newborn screening blood spots with the initial collection and
testing of the blood spots. March of Dimes recognizes both
the value of newborn screening blood spots for research use by
the scientific community and the importance of appropriate
parental involvement in decisions regarding storage and use of
post-screening blood spots. However, the March of Dimes
overriding interest is to safeguard the benefit to newborns of
early detection of conditions that seriously threaten their
lives or health and the initiation of treatment that is made
possible by timely newborn screening.
The California Children's Hospital Association (CCHA) writes
with concerns on a previous version of this bill, stating that
the current California blood spot database is an
internationally recognized public health asset because of its
size and diversity. The ability to study rare diseases,
diseases contained to small geographical areas or to small
subsets of California's genetically diverse population, as
well as the ability to link clinical and environmental data
(such as pesticides), would not be possible without
California's blood spot database. Implementing an informed
consent policy will require significant financial resources to
address education of families, training for health care
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providers in distributing and explaining the consent forms,
logistics and follow-up (e.g. destruction of blood spots).
Given that the federal Common Rule must be finalized by the
end of 2016 and will then govern these processes for the
majority of research in California, it would be best to ensure
that state law is congruent with federal policy. Currently,
this bill would move ahead with changes to state law that
could be in conflict with the final version of the federal
regulations.
CCHA concludes that under the legislation as written, parents
could receive the consent form twice or more, with the
potential for them to change their decision in between. This
could lead to confusion at DPH or the hospital gathering the
consent forms. This bill should contain some guidance about
how to handle this conflict.
5)CONCERN. The University of California (UC) writes with
concerns to a previous version of the bill that this measure
could significantly limit the availability of the valuable
data and biosamples collected by the CNSP for research use.
One of the greatest values of California's current process for
collecting and storing newborn dried blood samples comes from
its size and diversity. The samples stored by DPH reflect
California's diverse population and allows us to research how
different diseases affect different ethnicities. The sheer
number of samples makes research into rare diseases possible,
and also facilitates robust studies of regional environmental
factors that can cause disease. This bill's revised process
for research use of newborn dried blood samples is likely to
severely limit the number of samples that may be collected
which in turn, would greatly diminish the research value of
the current newborn dried blood samples stored by DPH. The UC
indicates concern that the bill's research terminology is
inconsistent with the Federal Policy for the Protection of
Human Subjects, or the "Common Rule." The Common Rule is
utilized by all Human Subject Protection Programs for
federally-funded research. The UC worries that the revised
consent process under this bill may confuse new parents
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instead of creating a greater understanding about the benefits
of the CNSP and the research it supports.
6)PREVIOUS LEGISLATION.
a) AB 1559 (Pan), Chapter 565, Statutes of 2014, expands
DPH statewide screening of newborns to include screening
for adrenoleukodystrophy (ALD) as soon the federal
Recommended Uniform Screening Panel approved the addition
of ALD.
b) SB 222 (Padilla) of 2014 would have enacted the Genetic
Information Privacy Act, which would have required an
individual's written authorization prior to the collection
of genetic information for testing, analysis, retention, or
disclosure. SB 222 was held in the Senate Appropriations
Committee.
c) SB 1267 (Padilla) of 2012 would have required an
individual's written authorization prior to the collection
of genetic information for testing, analysis, retention or
disclosure. Would have required destruction of the genetic
information upon completion of the purpose authorization
was obtained. SB 1267 was held in the Senate
Appropriations Committee.
d) AB 395 (Pan), Chapter 461, Statutes of 2011, expands
statewide screening of newborns to include screening for
severe combined immunodeficiency.
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e) 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.
f) SB 537 (Greene), Chapter 1011, Statutes of 1998,
required DPH to establish a program to provide extended
newborn genetic screening services for persons who elect to
have, and pay for, the additional screening.
7)DOUBLE REFERRAL. This bill has been double referred. It
passed the Assembly Committee on Privacy and Consumer
Protection with a vote of 9-2 on March 3, 2015
8)COMMITTEE AMENDMENTS.
a) Who stores the form? This bill requires the
informational acceptance form to be given to a woman at
prenatal visits and at the time of delivery. Because of
this broad time frame, a child's medical record may not yet
exist, and therefore the form would not be able to be
stored there as this bill provides. The Committee may
recommend amending this bill to provide that the signed
informational acceptance form be retained in the mother's
medical record.
b) Default provisions. This bill does not indicate what
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happens in the event that there is no signed informational
acceptance form. Because care providers are now required
to retain a signature on documents, it could lead to
confusion on what happens when a form is not present. The
Committee may recommend amending this bill to make it clear
that in the event that there is not a signed informational
acceptance form on file, the care provider is directed to
submit the NBS sample for storage and research.
c) Technical/clarifying amendments.
i) Regarding the process for parents to opt-out of a
newborn screening test if they wish to do so, current
statute reads as follows:
"(d) This section shall not apply if a parent or guardian
of the newborn child objects to a test on the ground that
the test conflicts with his or her religious beliefs or
practices."
Amendments submitted by the author sought to keep the
language regarding the process for the NBS test exactly
the same. Some changes were inadvertently made during
the drafting process, and the Committee may recommend
amendments that will reinstate this language and maintain
exactly what is currently in statute regarding the
newborn genetic disease screening test process.
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ii) Section 2 (c) of this bill requires DPH to provide
to a parent or legal guardian a standard informational
acceptance form regarding the options for newborn child
screening and retention of newborn child blood samples
collected. The informational acceptance form is intended
to apply only to the storage of child blood samples that
are collected, and is not intended to be a part of the
newborn screening test procedures. The Committee may
recommend clarifying and conforming amendment language as
follows:
Page 6, line 36-37: "(c) The department shall provide to
a parent or legal guardian the standard informational
acceptance form provided in Section 125004 regarding the
options for newborn child screening and retention of
newborn child blood samples collected pursuant to this
article."
Page 8, line 11 - "(4) A space for the parent or legal
guardian of the newborn child to acknowledge receipt of
informational materials regarding the newborn child
screening test, and the storage, retention, and use of
the newborn child's blood sample for medical research."
REGISTERED SUPPORT / OPPOSITION:
Support
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American Federation of State, County and Municipal Employees
Council for Responsible Genetics
Opposition
Advanced Medical Technology Association (prior version)
American Academy of Pediatrics, California (prior version)
Biocom (prior version)
California Children's Hospital Association (prior version)
California Healthcare Institute (prior version)
California Hospital Association
March of Dimes California Chapter
University of Southern California (prior version)
Analysis Prepared by:Paula Villescaz / HEALTH / (916) 319-2097