BILL ANALYSIS Ó
AB 170
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Date of Hearing: April 14, 2015
ASSEMBLY COMMITTEE ON HEALTH
Rob Bonta, Chair
AB 170
(Gatto) - As Amended March 25, 2015
SUBJECT: Newborn screening: genetic diseases: blood samples
collected
SUMMARY: Prohibits the Department of Public Health (DPH) from
testing a newborn child and retaining a blood sample for medical
research unless the parent or guardian provides informed
consent, as specified. Specifically, this bill:
1)Prohibits DPH from testing a newborn child unless the parent
or guardian provides informed consent, as specified.
2)Prohibits DPH from storing, retaining, or using for medical
research a blood sample collected unless the parent or
guardian provides informed consent, as specified.
3)Authorizes a parent or guardian of a minor child and the
newborn child, once he or she is at least 18 years of age, to
request that DPH destroy or not use for research purposes, or
both, the blood sample.
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4)Requires DPH to destroy blood samples if an individual that
has reached at least 18 years of age, or a parent or guardian
of a minor child, requests DPH to do so.
5)Requires DPH to prepare and provide informational materials
regarding the newborn child blood samples collected that
includes, but is not limited to, information on storage,
retention, and use of the blood sample, and the right of
specified persons to request that the blood sample be
destroyed or not used for research purposes, or both.
6)Requires DPH to prepare and provide a standard informed
consent form, to be distributed as specified, that includes an
explanation of the newborn child screening test and a space
for the parent or legal guardian of the newborn child to
indicate his or her consent to the storage, retention, and use
of the blood sample for medical research.
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
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.
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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. Also requires screening of newborns 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
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.
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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 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 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
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
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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,
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
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about one out of every 600 babies tested will have one of these
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
newborn screening program data, birth defects data, CBDMP
data and other population databases.
3)OPPOSITION. The California Hospital Association (CHA),
California Healthcare Institute, Advanced Medical Technology
Association, and Biocom write in opposition to 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
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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 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 that
the current California blood spot 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
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
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with concerns about 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 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 CDPH or the hospital gathering the
consent forms. This bill should contain some guidance about
how to handle this conflict.
4)CONCERN. The University of California (UC) writes with
concerns 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
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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
instead of creating a greater understanding about the benefits
of the NSP and the research it supports.
5)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. The bill would have required destruction of
the genetic information upon completion of the purpose
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authorization was obtained. SB 1267 was held in the Senate
Appropriations Committee.
d) SB 1731 (Block), Chapter 336, Statutes of 2012,
established the Newborn Critical Congenital Heart Disease
(CCHD) Screening Program and required hospitals, beginning
July 1, 2013, to offer a pulse oximetry test for the
identification of CCHD to parents of newborns prior to
discharge.
e) AB 395 (Pan), Chapter 461, Statutes of 2011, expands
statewide screening of newborns to include screening for
severe combined immunodeficiency.
f) 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.
g) AB 442 (Committee on Budget), Chapter 1161, Statutes of
2002, requires hospitals to collect fees associated with
any tests conducted under CNSP.
h) 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.
6)COMMITTEE AMENDMENTS. The CNSP program is crucial to
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protecting each newborn from identifiable and preventable
diseases. Approximately 10,000 newborn screenings per year
are classified as positive or questionable and are referred
for follow-up testing or services. Potentially saving the
lives of 10,000 babies outweighs any privacy protections that
parents may lay claim to. For this reason, the Committee
suggests amendments that remove any opt-in requirements to
have a newborn screened at birth.
On page 3, strike lines 29-34, and replace it with:
(d) This section shall not apply if a parent or guardian of the
newborn child objects to a test.
The Committee is sympathetic towards the many concerns raised
by the opposition and scientific community regarding opt-in
requirements to have dried blood spot samples stored and used
for research. Because the potential impacts on research are
uncertain, the Committee may wish to make an amendment that
would sunset these provisions of this bill.
On page 5, line 19 add:
(k) Section 125000 (d) (2) shall be repealed on January 1, 2022.
On page 7, line 32 add:
(e) Section 125004 (a) (4) and (6) (b) shall be repealed on
January 1, 2022.
REGISTERED SUPPORT / OPPOSITION:
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Support
American Federation of State, County and Municipal Employees
Opposition
Advanced Medical Technology Association
American Academy of Pediatrics, California
Biocom
California Children's Hospital Association
California Healthcare Institute
California Hospital Association
March of Dimes California Chapter
University of Southern California
Analysis Prepared by:Paula Villescaz / HEALTH / (916) 319-2097